Variant report

Variant	rs543397161
Chromosome Location	chr12:4758654-4758655
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	TAF1	chr12:4757537-4758703	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr12:4757781-4758894	SK-N-SH	brain:	n/a	chr12:4758282-4758302 chr12:4757987-4758004 chr12:4758288-4758300
3	MXI1	chr12:4757107-4759126	SK-N-SH	brain:	n/a	n/a
4	REST	chr12:4757476-4759419	H1-neurons	neurons:	n/a	n/a
5	SIN3AK20	chr12:4758139-4758705	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr12:4758103-4758661	GM12892	blood:	n/a	chr12:4758282-4758302 chr12:4758288-4758300
7	TCF12	chr12:4757783-4758724	ECC-1	luminal epithelium:	n/a	n/a
8	SIN3A	chr12:4757582-4758974	H1-hESC	embryonic stem cell:	n/a	chr12:4758562-4758570
9	POLR2A	chr12:4757556-4758695	H1-neurons	neurons:	n/a	n/a
10	REST	chr12:4757652-4758799	A549	lung:	n/a	n/a
11	NRF1	chr12:4757918-4758794	SK-N-SH	brain:	n/a	chr12:4758199-4758210 chr12:4758500-4758507 chr12:4758199-4758213 chr12:4758199-4758210 chr12:4758201-4758210
12	YY1	chr12:4757730-4758668	H1-hESC	embryonic stem cell:	n/a	chr12:4758282-4758302 chr12:4757987-4758004 chr12:4758288-4758300
13	TCF12	chr12:4757797-4758694	ECC-1	luminal epithelium:	n/a	n/a
14	SIN3AK20	chr12:4758040-4758660	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr12:4757628-4758685	K562	blood:	n/a	n/a
16	POLR2A	chr12:4757655-4758910	K562	blood:	n/a	n/a
17	TAF1	chr12:4757695-4758833	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr12:4757674-4758864	K562	blood:	n/a	n/a
19	POLR2A	chr12:4757562-4758670	GM12892	blood:	n/a	n/a
20	RFX5	chr12:4757673-4758883	Hela-S3	cervix:	n/a	n/a
21	MAZ	chr12:4758061-4758674	GM12878	blood:	n/a	n/a
22	KAP1	chr12:4757565-4758872	HEK293	kidney:	n/a	chr12:4757802-4757810 chr12:4758453-4758461
23	POLR2A	chr12:4757948-4758955	IMR90	lung:	n/a	n/a
24	POLR2A	chr12:4757703-4758656	ProgFib	skin:	n/a	n/a
25	IRF1	chr12:4757649-4758939	K562	blood:	n/a	chr12:4757801-4757812 chr12:4758492-4758506 chr12:4758491-4758502 chr12:4758490-4758510 chr12:4758492-4758502 chr12:4758486-4758503 chr12:4758113-4758123 chr12:4758491-4758503 chr12:4757801-4757815 chr12:4758134-4758151 chr12:4757795-4757815 chr12:4757799-4757813 chr12:4758491-4758504 chr12:4758115-4758124
26	POLR2A	chr12:4757746-4758669	U87	brain:	n/a	n/a
27	POLR2A	chr12:4758043-4758664	K562	blood:	n/a	n/a
28	IRF1	chr12:4757771-4759213	K562	blood:	n/a	chr12:4757801-4757812 chr12:4758492-4758506 chr12:4758491-4758502 chr12:4758490-4758510 chr12:4759008-4759022 chr12:4758492-4758502 chr12:4758486-4758503 chr12:4758113-4758123 chr12:4758491-4758503 chr12:4757801-4757815 chr12:4758959-4758972 chr12:4758134-4758151 chr12:4757795-4757815 chr12:4757799-4757813 chr12:4758960-4758974 chr12:4758491-4758504 chr12:4759009-4759023 chr12:4758115-4758124 chr12:4759010-4759021 chr12:4759010-4759024
29	MYC	chr12:4758649-4758901	MCF10A-Er-Src	breast:	n/a	n/a
30	YY1	chr12:4757789-4758706	A549	lung:	n/a	chr12:4758282-4758302 chr12:4757987-4758004 chr12:4758288-4758300
31	TEAD4	chr12:4757992-4758738	ECC-1	luminal epithelium:	n/a	n/a
32	BRCA1	chr12:4757522-4758889	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr12:4757354-4758666	GM12878	blood:	n/a	n/a
34	MTA3	chr12:4757175-4758801	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:4757651-4758790	GM12878	blood:	n/a	n/a
36	TAF1	chr12:4757965-4758793	H1-neurons	neurons:	n/a	n/a
37	TBP	chr12:4757963-4758682	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:4757240-4758656	MCF10A-Er-Src	breast:	n/a	n/a
39	YY1	chr12:4757719-4758704	ECC-1	luminal epithelium:	n/a	chr12:4758282-4758302 chr12:4757987-4758004 chr12:4758288-4758300
40	POLR2A	chr12:4757880-4758663	GM12878	blood:	n/a	n/a
41	TCF12	chr12:4757616-4758692	A549	lung:	n/a	n/a
42	POLR2A	chr12:4757740-4758703	U87	brain:	n/a	n/a
43	HCFC1	chr12:4757295-4759184	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:4757225-4758826	GM12891	blood:	n/a	n/a
45	ETS1	chr12:4757838-4758700	A549	lung:	n/a	chr12:4758354-4758367
46	TAF1	chr12:4757487-4758703	ECC-1	luminal epithelium:	n/a	n/a
47	YY1	chr12:4757786-4758720	H1-hESC	embryonic stem cell:	n/a	chr12:4758282-4758302 chr12:4757987-4758004 chr12:4758288-4758300
48	YY1	chr12:4757795-4758696	ECC-1	luminal epithelium:	n/a	chr12:4758282-4758302 chr12:4757987-4758004 chr12:4758288-4758300
49	POLR2A	chr12:4757334-4758749	Raji	blood:	n/a	n/a
50	ESRRA	chr12:4756578-4758766	GM12878	blood:	n/a	chr12:4757367-4757376

No.	Distal block	Cell Line	Cell type
1	chr12:4757018..4762059-chr12:4764285..4767290,6	K562	blood:
2	chr12:4756861..4759668-chr12:4760395..4765208,7	MCF-7	breast:
3	chr12:4751073..4755821-chr12:4757118..4761577,5	MCF-7	breast:
4	chr12:4757063..4759938-chr12:4760465..4764038,5	K562	blood:
5	chr12:4754845..4760714-chr12:4761830..4765057,7	MCF-7	breast:
6	chr12:4757573..4759938-chr12:4760465..4764276,3	K562	blood:
7	chr12:4758381..4761405-chr12:4778974..4782071,3	K562	blood:

Variant related genes	Relation type
NDUFA9	TF binding region
AKAP3	TF binding region
ENSG00000139180	Chromatin interaction
ENSG00000256381	Chromatin interaction
ENSG00000111254	Chromatin interaction
ENSG00000255639	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898618	chr12:4726068-4764137	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv898619	chr12:4737715-4771456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv898620	chr12:4745313-4771456	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv557125	chr12:4748410-4764137	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1036308	chr12:4748657-4804156	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv898621	chr12:4751798-4768193	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv898622	chr12:4751798-4768619	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv898623	chr12:4751798-4771456	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv898624	chr12:4757474-4769876	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv557126	chr12:4757809-4768619	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4757000-4758800	Active TSS	Colonic Mucosa	Colon
2	chr12:4757000-4759200	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr12:4757200-4758800	Active TSS	Brain Hippocampus Middle	brain
4	chr12:4757200-4758800	Active TSS	Fetal Stomach	stomach
5	chr12:4757200-4758800	Active TSS	Stomach Smooth Muscle	stomach
6	chr12:4757200-4759000	Active TSS	NHLF	lung
7	chr12:4757200-4759200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:4757200-4759200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:4757200-4759200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:4757200-4759400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr12:4757200-4759400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:4757200-4759400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:4757200-4759400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:4757200-4759400	Active TSS	K562	blood
15	chr12:4757200-4759400	Active TSS	NHDF-Ad	bronchial
16	chr12:4757200-4760200	Active TSS	Right Atrium	heart
17	chr12:4757400-4758800	Active TSS	Brain Cingulate Gyrus	brain
18	chr12:4757400-4758800	Active TSS	Brain Germinal Matrix	brain
19	chr12:4757400-4758800	Active TSS	Duodenum Mucosa	Duodenum
20	chr12:4757400-4758800	Active TSS	Fetal Brain Male	brain
21	chr12:4757400-4758800	Active TSS	Placenta	Placenta
22	chr12:4757400-4759000	Active TSS	Aorta	Aorta
23	chr12:4757400-4759000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr12:4757400-4759000	Active TSS	Fetal Lung	lung
25	chr12:4757400-4759000	Active TSS	Pancreas	Pancrea
26	chr12:4757400-4759000	Active TSS	Osteobl	bone
27	chr12:4757400-4759200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr12:4757400-4759200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:4757400-4759200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr12:4757400-4759200	Active TSS	Muscle Satellite Cultured Cells	--
31	chr12:4757400-4759200	Active TSS	Fetal Intestine Large	intestine
32	chr12:4757400-4759200	Active TSS	Fetal Muscle Trunk	muscle
33	chr12:4757400-4759200	Active TSS	Ovary	ovary
34	chr12:4757400-4759200	Active TSS	A549	lung
35	chr12:4757400-4759200	Active TSS	HSMMtube	muscle
36	chr12:4757400-4759400	Active TSS	Fetal Intestine Small	intestine
37	chr12:4757400-4759600	Active TSS	H1 Cell Line	embryonic stem cell
38	chr12:4757400-4759600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:4757400-4759800	Active TSS	Psoas Muscle	Psoas
40	chr12:4757400-4759800	Active TSS	Right Ventricle	heart
41	chr12:4757600-4758800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:4757600-4758800	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr12:4757600-4758800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:4757600-4758800	Active TSS	Brain Angular Gyrus	brain
45	chr12:4757600-4758800	Active TSS	Brain Substantia Nigra	brain
46	chr12:4757600-4758800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr12:4757600-4758800	Active TSS	Fetal Thymus	thymus
48	chr12:4757600-4758800	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr12:4757600-4759000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr12:4757600-4759000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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