Variant report

Variant	rs13328978
Chromosome Location	chr12:31437609-31437610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31437269..31440946-chr12:31476584..31478708,4	K562	blood:
2	chr12:31436681..31438944-chr12:31454544..31456802,2	K562	blood:
3	chr12:31431393..31434433-chr12:31435348..31438398,4	K562	blood:
4	chr12:31431180..31432893-chr12:31435348..31438237,2	K562	blood:

Variant related genes	Relation type
ENSG00000238661	Chromatin interaction
ENSG00000177340	Chromatin interaction
ENSG00000139146	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17576150	1.00[TSI][hapmap]
rs1873676	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57445509	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57566796	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307202	0.92[ASN][1000 genomes]
rs7310096	1.00[ASN][1000 genomes]
rs7958150	1.00[JPT][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	esv2758303	chr12:31125467-31491104	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	esv2759890	chr12:31125467-31491104	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv428276	chr12:31125467-31491104	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	esv2751043	chr12:31148662-31499671	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	nsv515974	chr12:31201717-31452750	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	nsv1045497	chr12:31213735-31458547	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	esv2751053	chr12:31225710-31484881	Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	esv2754121	chr12:31225710-31493435	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv2751054	chr12:31225710-31513718	Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	esv2757495	chr12:31234168-31444218	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	esv35092	chr12:31239600-31484833	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
16	esv2751071	chr12:31239600-31493435	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
17	esv2751072	chr12:31239600-31499671	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
18	nsv430477	chr12:31239600-31513718	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
19	esv2751077	chr12:31278031-31499671	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
20	nsv1043187	chr12:31356144-31444060	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
21	nsv524737	chr12:31399901-31464663	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31413800-31449200	Weak transcription	Pancreas	Pancrea
2	chr12:31414600-31439000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:31422600-31439200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:31422800-31441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:31424000-31438600	Weak transcription	Ovary	ovary
6	chr12:31426000-31460200	Weak transcription	Aorta	Aorta
7	chr12:31427000-31447000	Weak transcription	NHLF	lung
8	chr12:31427200-31441400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:31427200-31459800	Weak transcription	Gastric	stomach
10	chr12:31427400-31442600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:31427600-31460800	Strong transcription	Fetal Thymus	thymus
12	chr12:31427800-31439200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:31428000-31439000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:31428200-31439400	Weak transcription	Spleen	Spleen
15	chr12:31428200-31441600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:31428600-31458600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:31428600-31470000	Weak transcription	Small Intestine	intestine
18	chr12:31429200-31437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:31429600-31451000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:31430600-31462200	Weak transcription	Psoas Muscle	Psoas
21	chr12:31430800-31438600	Weak transcription	Brain Germinal Matrix	brain
22	chr12:31430800-31460600	Weak transcription	Right Ventricle	heart
23	chr12:31431200-31439200	Weak transcription	Esophagus	oesophagus
24	chr12:31431400-31438400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:31431400-31451400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:31431600-31438600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:31432800-31438000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:31432800-31438600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:31432800-31438600	Weak transcription	Fetal Stomach	stomach
30	chr12:31432800-31441200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:31432800-31449200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:31433000-31470200	Weak transcription	Stomach Mucosa	stomach
33	chr12:31433200-31438600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:31433400-31439800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:31433400-31441200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:31433400-31446200	Weak transcription	Fetal Heart	heart
37	chr12:31433400-31451400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:31434000-31456200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:31434400-31451200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:31434600-31451000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:31434600-31459800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:31434800-31441200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:31434800-31441400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:31434800-31441600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:31434800-31450200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:31434800-31451000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:31434800-31451200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr12:31434800-31451200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:31435000-31449400	Strong transcription	GM12878-XiMat	blood
50	chr12:31435000-31450600	Strong transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links