Variant report

Variant	rs12764797
Chromosome Location	chr10:43601559-43601560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43601071..43602866-chr10:43603676..43605812,2	K562	blood:
2	chr10:43589765..43592695-chr10:43600961..43603100,2	MCF-7	breast:
3	chr10:43574441..43574987-chr10:43601035..43601611,2	K562	blood:
4	chr10:43571287..43574219-chr10:43600622..43603596,3	MCF-7	breast:
5	chr10:43587904..43589717-chr10:43600959..43603478,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165731	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12773930	1.00[YRI][hapmap]
rs1864409	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1879298	0.86[CHD][hapmap]
rs2435351	0.88[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs2435367	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs2472739	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs2472741	0.88[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs7067798	0.86[CHD][hapmap]

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	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv466880	chr10:43452436-43616751	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
7	nsv550695	chr10:43452436-43616751	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
8	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	13 gene(s)	inside rSNPs	diseases
10	nsv1051701	chr10:43555542-43642895	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv522592	chr10:43574936-43615505	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv522566	chr10:43596728-43610671	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43600400-43601600	Active TSS	Brain Hippocampus Middle	brain
2	chr10:43600400-43601600	Enhancers	Fetal Heart	heart
3	chr10:43600600-43601600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr10:43600600-43601600	Active TSS	Hela-S3	cervix
5	chr10:43600800-43601600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr10:43600800-43601600	Enhancers	K562	blood
7	chr10:43601000-43601600	Enhancers	Primary T cells from cord blood	blood
8	chr10:43601000-43601600	Enhancers	Primary hematopoietic stem cells	blood
9	chr10:43601000-43601600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:43601000-43601600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr10:43601000-43601600	Enhancers	Esophagus	oesophagus
12	chr10:43601000-43601600	Enhancers	Fetal Muscle Leg	muscle
13	chr10:43601000-43601600	Bivalent Enhancer	Fetal Stomach	stomach
14	chr10:43601000-43601600	Enhancers	Fetal Thymus	thymus
15	chr10:43601000-43601600	Enhancers	Pancreas	Pancrea
16	chr10:43601000-43601600	Enhancers	Stomach Mucosa	stomach
17	chr10:43601000-43601800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr10:43601000-43601800	Bivalent Enhancer	Placenta	Placenta
19	chr10:43601000-43601800	Weak transcription	HUVEC	blood vessel
20	chr10:43601000-43602000	Enhancers	Primary B cells from cord blood	blood
21	chr10:43601000-43602000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr10:43601000-43602600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr10:43601000-43605800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:43601200-43601600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:43601200-43601600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr10:43601200-43601600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr10:43601200-43601600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr10:43601200-43601600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr10:43601200-43601600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr10:43601200-43601600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr10:43601200-43601600	Enhancers	Ovary	ovary
32	chr10:43601200-43601600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr10:43601200-43602000	Enhancers	Fetal Intestine Large	intestine
34	chr10:43601200-43602200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:43601200-43602400	Enhancers	Primary B cells from peripheral blood	blood
36	chr10:43601200-43602600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:43601200-43603000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr10:43601400-43601600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr10:43601400-43601600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr10:43601400-43601600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr10:43601400-43601600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr10:43601400-43601600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr10:43601400-43601600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:43601400-43601600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:43601400-43601600	Enhancers	Brain Anterior Caudate	brain
46	chr10:43601400-43601600	Active TSS	Brain Germinal Matrix	brain
47	chr10:43601400-43601600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr10:43601400-43601600	Enhancers	Duodenum Mucosa	Duodenum
49	chr10:43601400-43601600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr10:43601400-43601600	Enhancers	Right Ventricle	heart

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