Variant report

Variant	rs74057623
Chromosome Location	chr12:322014-322015
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr12:321953-322452	HepG2	liver:	n/a	chr12:322360-322369 chr12:322062-322076 chr12:321953-321965 chr12:321954-321964 chr12:322378-322388 chr12:322068-322082 chr12:321955-321964
2	HNF4A	chr12:321979-322419	HepG2	liver:	n/a	chr12:322176-322184 chr12:322174-322182 chr12:322174-322189 chr12:322175-322189 chr12:322175-322190
3	ZBTB7A	chr12:321846-323098	ECC-1	luminal epithelium:	n/a	n/a
4	TCF12	chr12:321795-323593	ECC-1	luminal epithelium:	n/a	chr12:322764-322774 chr12:323354-323364 chr12:322819-322829
5	HDAC2	chr12:321968-322364	HepG2	liver:	n/a	n/a
6	HNF4A	chr12:322004-322389	HepG2	liver:	n/a	chr12:322176-322184 chr12:322174-322182 chr12:322174-322189 chr12:322175-322189 chr12:322175-322190
7	MAX	chr12:321838-323123	ECC-1	luminal epithelium:	n/a	n/a
8	EP300	chr12:321904-322395	HepG2	liver:	n/a	n/a
9	FOXA2	chr12:321962-322244	HepG2	liver:	n/a	n/a
10	HNF4G	chr12:321913-322385	HepG2	liver:	n/a	chr12:322176-322184 chr12:322174-322182 chr12:322173-322188 chr12:322175-322189 chr12:322175-322190
11	NFIC	chr12:321850-323094	ECC-1	luminal epithelium:	n/a	n/a
12	SPI1	chr12:320890-322138	HL-60	blood:	n/a	chr12:321620-321633 chr12:321621-321634
13	EP300	chr12:321940-323108	ECC-1	luminal epithelium:	n/a	chr12:323023-323039
14	TCF12	chr12:321842-323149	ECC-1	luminal epithelium:	n/a	chr12:322764-322774 chr12:322819-322829
15	TEAD4	chr12:321958-322963	ECC-1	luminal epithelium:	n/a	n/a
16	NFIC	chr12:321832-322897	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr12:321991-323079	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
SLC6A12	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16928441	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16928487	0.87[AMR][1000 genomes]
rs188610	1.00[EUR][1000 genomes]
rs34042024	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs522993	1.00[EUR][1000 genomes]
rs530510	1.00[EUR][1000 genomes]
rs7138605	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7315381	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74057622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv983433	chr12:145740-400932	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv427901	chr12:146333-344299	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv428269	chr12:146333-344299	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1038621	chr12:150430-324923	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv556856	chr12:282465-327421	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv468946	chr12:282465-335922	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv556855	chr12:282465-335922	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv898561	chr12:282465-335922	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1051166	chr12:282465-341144	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv898560	chr12:282465-349298	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv898557	chr12:282465-367902	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv491944	chr12:282465-369192	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv468947	chr12:282465-377904	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv556857	chr12:282465-377904	Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1037090	chr12:282465-387718	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1042229	chr12:282465-387718	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv541303	chr12:282465-387718	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1046121	chr12:282465-416134	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv531957	chr12:282465-465789	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv1049579	chr12:282465-471163	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv949498	chr12:282465-493900	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	nsv1051726	chr12:282465-511843	Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
23	nsv541304	chr12:282465-635505	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
24	nsv1042991	chr12:282465-666255	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
25	nsv1041574	chr12:282465-812000	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
26	nsv541305	chr12:282465-1016828	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
27	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
28	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
29	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
30	nsv556861	chr12:293513-360614	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
31	nsv1036580	chr12:295971-365820	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
32	nsv1054973	chr12:296179-464439	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
33	nsv541321	chr12:296179-464439	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
34	nsv523142	chr12:299043-332860	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
35	nsv1050781	chr12:321353-783899	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
36	nsv1040849	chr12:321619-771493	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
37	nsv541322	chr12:321619-771493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
38	nsv1035679	chr12:321619-781558	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
39	nsv1053519	chr12:321619-828175	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
40	nsv1044433	chr12:321619-1065402	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
41	nsv541323	chr12:321619-1065402	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:317200-323400	Enhancers	Pancreas	Pancrea
2	chr12:319800-323600	Flanking Active TSS	Liver	Liver
3	chr12:320600-324000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr12:321000-323000	Enhancers	GM12878-XiMat	blood
5	chr12:321000-324200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:321200-322800	Bivalent Enhancer	Placenta	Placenta
7	chr12:321200-323000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:321200-323000	Enhancers	Gastric	stomach
9	chr12:321200-323400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr12:321200-323600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr12:321200-324000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr12:321400-322200	Enhancers	Ovary	ovary
13	chr12:321400-322400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:321400-322600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:321400-322600	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:321400-322800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr12:321400-323000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:321400-323400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr12:321600-322200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:321600-322400	Enhancers	Fetal Kidney	kidney
21	chr12:321600-322800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:321600-323200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr12:321600-323400	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr12:321800-322200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
25	chr12:321800-322200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:321800-322200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
27	chr12:321800-322200	Flanking Active TSS	HepG2	liver
28	chr12:321800-322400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:321800-322400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:321800-322400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:321800-322400	Flanking Active TSS	Colonic Mucosa	Colon
32	chr12:321800-322400	Bivalent Enhancer	Fetal Stomach	stomach
33	chr12:321800-322800	Enhancers	A549	lung
34	chr12:321800-323000	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr12:321800-323000	Enhancers	Fetal Lung	lung
36	chr12:321800-323200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:321800-323200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr12:321800-323400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr12:321800-323400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr12:321800-323600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:321800-324000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr12:321800-324000	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr12:321800-324200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:322000-322200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
45	chr12:322000-322200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:322000-322200	Bivalent Enhancer	Brain Germinal Matrix	brain
47	chr12:322000-322200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:322000-322200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
49	chr12:322000-322200	Bivalent Enhancer	HSMMtube	muscle
50	chr12:322000-322600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell

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