Variant report

Variant	rs10437836
Chromosome Location	chr12:120646092-120646093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
2	chr12:120642676..120646805-chr12:120725565..120732317,8	K562	blood:

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000123009	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11065035	0.88[EUR][1000 genomes]
rs11065036	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11833158	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11836049	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12305184	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12306075	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12310433	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12312562	0.88[EUR][1000 genomes]
rs12320253	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12321884	0.82[ASN][1000 genomes]
rs12578300	0.94[EUR][1000 genomes]
rs2074540	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2238155	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2240315	0.84[EUR][1000 genomes]
rs2240317	0.88[EUR][1000 genomes]
rs2240318	0.90[EUR][1000 genomes]
rs2240319	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2240320	0.89[EUR][1000 genomes]
rs2240321	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2240322	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2240323	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2240325	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2269940	0.82[EUR][1000 genomes]
rs2269941	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2269943	0.84[EUR][1000 genomes]
rs2269944	0.90[EUR][1000 genomes]
rs2269945	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2283362	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2283364	0.82[ASN][1000 genomes]
rs2286045	0.86[EUR][1000 genomes]
rs2286049	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2286050	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2286051	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3742039	0.83[ASN][1000 genomes]
rs3742040	0.82[EUR][1000 genomes]
rs3815210	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3888586	0.87[ASN][1000 genomes]
rs4522230	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57546423	0.85[EUR][1000 genomes]
rs57780521	0.83[EUR][1000 genomes]
rs59601514	0.93[EUR][1000 genomes]
rs60271600	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7133235	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7134706	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7135914	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7294892	0.86[EUR][1000 genomes]
rs7296380	0.87[ASN][1000 genomes]
rs7299429	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7301660	0.82[ASN][1000 genomes]
rs7960120	0.83[ASN][1000 genomes]
rs7978061	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7978175	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9630281	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9651914	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS 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 miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active 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	99 gene(s)	inside rSNPs	diseases
3	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
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120639600-120651400	Weak transcription	Stomach Mucosa	stomach
2	chr12:120639800-120647600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:120639800-120647600	Weak transcription	Esophagus	oesophagus
4	chr12:120639800-120647600	Weak transcription	Gastric	stomach
5	chr12:120639800-120647600	Weak transcription	Left Ventricle	heart
6	chr12:120639800-120647600	Weak transcription	Right Ventricle	heart
7	chr12:120639800-120647600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:120639800-120647600	Weak transcription	Spleen	Spleen
9	chr12:120639800-120647600	Weak transcription	HSMMtube	muscle
10	chr12:120639800-120647800	Weak transcription	Aorta	Aorta
11	chr12:120639800-120648000	Weak transcription	Psoas Muscle	Psoas
12	chr12:120639800-120648400	Weak transcription	Small Intestine	intestine
13	chr12:120640000-120647600	Weak transcription	Colonic Mucosa	Colon
14	chr12:120640000-120647600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:120640000-120647800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:120640000-120648000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:120640000-120650000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:120640000-120650200	Weak transcription	Brain Substantia Nigra	brain
19	chr12:120640200-120647000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:120640200-120647400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:120640200-120647600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:120640200-120647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:120640200-120647600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:120640200-120647600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:120640200-120647600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:120640200-120647600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:120640200-120647600	Weak transcription	Brain Germinal Matrix	brain
28	chr12:120640200-120647600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:120640200-120647600	Weak transcription	Placenta	Placenta
30	chr12:120640200-120647600	Weak transcription	Pancreas	Pancrea
31	chr12:120640200-120647600	Weak transcription	HMEC	breast
32	chr12:120640200-120647600	Weak transcription	NH-A	brain
33	chr12:120640200-120647600	Weak transcription	NHLF	lung
34	chr12:120640200-120647800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:120640200-120647800	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:120640200-120647800	Weak transcription	Hela-S3	cervix
37	chr12:120640200-120647800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr12:120640200-120647800	Weak transcription	NHDF-Ad	bronchial
39	chr12:120640200-120648000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:120640200-120648400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr12:120640200-120648800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:120640200-120649800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:120640200-120651400	Weak transcription	Fetal Kidney	kidney
44	chr12:120640200-120661800	Weak transcription	GM12878-XiMat	blood
45	chr12:120640200-120662400	Weak transcription	Fetal Brain Male	brain
46	chr12:120640400-120647600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:120640400-120647600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:120640400-120647800	Weak transcription	HUVEC	blood vessel
49	chr12:120640400-120648400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:120640400-120651400	Weak transcription	Brain Angular Gyrus	brain

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