Variant report

Variant	rs12308431
Chromosome Location	chr12:120682221-120682222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
2	chr12:120631699..120641379-chr12:120675218..120683260,16	K562	blood:
3	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
4	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:
5	chr12:120636299..120641088-chr12:120677088..120682968,7	K562	blood:

Variant related genes	Relation type
ENSG00000089157	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10849739	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065061	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065064	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1151824	0.85[EUR][1000 genomes]
rs1151825	0.85[EUR][1000 genomes]
rs1151827	0.85[EUR][1000 genomes]
rs1151830	0.82[EUR][1000 genomes]
rs1151832	0.85[EUR][1000 genomes]
rs1151837	0.85[EUR][1000 genomes]
rs1182860	0.85[EUR][1000 genomes]
rs11831552	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1183781	0.85[EUR][1000 genomes]
rs12164847	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12305146	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12321884	0.80[AMR][1000 genomes]
rs12581983	0.81[AMR][1000 genomes]
rs1634814	0.85[EUR][1000 genomes]
rs1634815	0.85[EUR][1000 genomes]
rs2006194	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2238156	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2238157	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2239208	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2283364	0.80[AMR][1000 genomes]
rs2283365	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2524391	0.83[EUR][1000 genomes]
rs3759397	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3888587	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3888588	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3890165	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3956833	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767886	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61198412	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7300273	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs739809	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7953949	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7966099	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription 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 miRNA target site	436 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	chr12:120665200-120692000	Enhancers	Placenta	Placenta
2	chr12:120666200-120686000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr12:120669800-120687600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr12:120671800-120682800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:120673800-120682800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:120674200-120682800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:120674200-120687600	Weak transcription	Fetal Kidney	kidney
8	chr12:120674400-120683400	Genic enhancers	Primary T cells fromperipheralblood	blood
9	chr12:120675800-120685000	Weak transcription	Stomach Mucosa	stomach
10	chr12:120675800-120686400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:120676400-120682600	Weak transcription	Ovary	ovary
12	chr12:120676400-120685000	Genic enhancers	NHEK	skin
13	chr12:120676400-120687400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
15	chr12:120676600-120682800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:120676800-120682600	Weak transcription	NH-A	brain
17	chr12:120676800-120682800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:120676800-120685800	Weak transcription	Small Intestine	intestine
19	chr12:120677000-120683400	Enhancers	HSMMtube	muscle
20	chr12:120677000-120685200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:120678000-120683000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:120678000-120683200	Enhancers	NHDF-Ad	bronchial
23	chr12:120678200-120685200	Weak transcription	Hela-S3	cervix
24	chr12:120678800-120687200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:120679200-120682800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:120679400-120682800	Weak transcription	Pancreas	Pancrea
27	chr12:120679600-120682800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:120679600-120687200	Weak transcription	Brain Angular Gyrus	brain
29	chr12:120679800-120682800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:120679800-120682800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:120679800-120683000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:120679800-120685800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:120679800-120686000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:120680000-120682800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:120680000-120682800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:120680000-120682800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:120680000-120682800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:120680000-120682800	Weak transcription	Fetal Lung	lung
39	chr12:120680000-120682800	Weak transcription	Gastric	stomach
40	chr12:120680000-120684200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:120680000-120685200	Enhancers	HUVEC	blood vessel
42	chr12:120680000-120685400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr12:120680000-120686000	Weak transcription	Colonic Mucosa	Colon
44	chr12:120680000-120687000	Weak transcription	Brain Anterior Caudate	brain
45	chr12:120680200-120683200	Strong transcription	Fetal Intestine Small	intestine
46	chr12:120680200-120687400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:120680400-120682800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:120680400-120682800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:120680400-120682800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:120680400-120682800	Weak transcription	Brain Cingulate Gyrus	brain

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