Variant report

Variant	rs12308167
Chromosome Location	chr12:31459016-31459017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31455579..31460655-chr12:31474962..31479501,11	K562	blood:
2	chr12:31457929..31460649-chr12:31460819..31462491,2	K562	blood:
3	chr12:31420076..31422123-chr12:31458375..31460920,2	K562	blood:
4	chr12:31447793..31455081-chr12:31455286..31461328,11	K562	blood:
5	chr12:31458676..31462198-chr12:31475765..31478520,3	MCF-7	breast:
6	chr12:31457955..31460951-chr12:31462619..31465646,6	K562	blood:
7	chr12:31455562..31457310-chr12:31458549..31461473,2	K562	blood:

Variant related genes	Relation type
ENSG00000256176	Chromatin interaction
ENSG00000238661	Chromatin interaction
ENSG00000177340	Chromatin interaction
ENSG00000139146	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7958150	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31426000-31460200	Weak transcription	Aorta	Aorta
2	chr12:31427200-31459800	Weak transcription	Gastric	stomach
3	chr12:31427600-31460800	Strong transcription	Fetal Thymus	thymus
4	chr12:31428600-31470000	Weak transcription	Small Intestine	intestine
5	chr12:31430600-31462200	Weak transcription	Psoas Muscle	Psoas
6	chr12:31430800-31460600	Weak transcription	Right Ventricle	heart
7	chr12:31433000-31470200	Weak transcription	Stomach Mucosa	stomach
8	chr12:31434600-31459800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:31435600-31460600	Strong transcription	Dnd41	blood
10	chr12:31438400-31459600	Strong transcription	Hela-S3	cervix
11	chr12:31440200-31460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:31440400-31462200	Weak transcription	Osteobl	bone
13	chr12:31440800-31470000	Weak transcription	Fetal Lung	lung
14	chr12:31445400-31460000	Weak transcription	Left Ventricle	heart
15	chr12:31446200-31460400	Weak transcription	Brain Anterior Caudate	brain
16	chr12:31446600-31468000	Weak transcription	Fetal Heart	heart
17	chr12:31446600-31470000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:31448000-31468000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:31448600-31461600	Weak transcription	NHLF	lung
20	chr12:31449000-31460800	Strong transcription	Primary T cells from cord blood	blood
21	chr12:31449800-31464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:31449800-31472800	Weak transcription	Pancreas	Pancrea
23	chr12:31450000-31464000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:31450000-31471000	Weak transcription	Esophagus	oesophagus
25	chr12:31451000-31470400	Weak transcription	Colonic Mucosa	Colon
26	chr12:31451400-31459800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr12:31451400-31460800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:31452000-31460000	Strong transcription	Primary B cells from cord blood	blood
29	chr12:31453600-31459600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:31454200-31459600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:31454200-31461200	Weak transcription	Spleen	Spleen
32	chr12:31454600-31459400	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr12:31454600-31459600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:31454600-31459800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:31454600-31460200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr12:31454800-31460600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:31455200-31460200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr12:31455200-31469800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:31455600-31461200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:31455600-31461800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:31456800-31459800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:31457000-31459800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:31457000-31461200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:31457000-31467600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:31457200-31467800	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:31457200-31469800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:31457400-31460000	Weak transcription	HMEC	breast
48	chr12:31457400-31465800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:31457600-31467800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr12:31457600-31475800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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