Variant report

Variant	rs12263912
Chromosome Location	chr10:6133406-6133407
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6132741..6135647-chr10:6244936..6248119,3	MCF-7	breast:
2	chr10:6018551..6021640-chr10:6130714..6134315,5	MCF-7	breast:
3	chr10:6133090..6135580-chr10:6163939..6166361,2	K562	blood:
4	chr10:6130983..6133585-chr10:6620139..6622430,2	K562	blood:
5	chr10:6131418..6133941-chr10:6140772..6145305,6	K562	blood:
6	chr10:6131173..6133943-chr10:6186718..6189110,2	MCF-7	breast:
7	chr10:6128513..6130219-chr10:6132306..6134990,2	MCF-7	breast:
8	chr10:6131719..6134216-chr10:6253022..6254903,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237943	Chromatin interaction
ENSG00000134470	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000065675	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10905861	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11256626	0.88[ASN][1000 genomes]
rs11256664	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11256685	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11256761	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11256763	0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11256801	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11256810	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11256854	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11256893	1.00[EUR][1000 genomes]
rs11256895	0.84[ASN][1000 genomes]
rs12252274	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12254328	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12262454	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264240	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12412910	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12416306	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750669	0.89[ASN][1000 genomes]
rs58138632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59330649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60859211	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60960627	0.92[AFR][1000 genomes];0.85[AMR][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	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv894815	chr10:6108439-6161781	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1040397	chr10:6129759-6158697	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6132000-6133800	Flanking Active TSS	Dnd41	blood
2	chr10:6132200-6134000	Enhancers	Primary B cells from peripheral blood	blood
3	chr10:6132200-6134200	Enhancers	Small Intestine	intestine
4	chr10:6132200-6134400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:6132200-6135800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr10:6132200-6138200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:6132200-6139200	Weak transcription	Gastric	stomach
8	chr10:6132400-6133800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:6132400-6134000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr10:6132400-6134000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr10:6132400-6134200	Enhancers	Brain Cingulate Gyrus	brain
12	chr10:6132400-6135000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr10:6132400-6135400	Enhancers	Primary B cells from cord blood	blood
14	chr10:6132400-6139000	Weak transcription	Esophagus	oesophagus
15	chr10:6132400-6139200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr10:6132400-6139200	Weak transcription	Aorta	Aorta
17	chr10:6132400-6139600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:6132600-6133600	Enhancers	Fetal Stomach	stomach
19	chr10:6132600-6133600	Enhancers	Fetal Thymus	thymus
20	chr10:6132600-6133800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:6132600-6133800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:6132600-6133800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr10:6132600-6134000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr10:6132600-6134000	Enhancers	Colon Smooth Muscle	Colon
25	chr10:6132600-6134000	Enhancers	Ovary	ovary
26	chr10:6132600-6134200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr10:6132600-6134200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr10:6132600-6134200	Enhancers	Brain Germinal Matrix	brain
29	chr10:6132600-6134400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:6132600-6134400	Enhancers	Liver	Liver
31	chr10:6132600-6134600	Enhancers	Duodenum Mucosa	Duodenum
32	chr10:6132600-6134800	Enhancers	Primary T cells from cord blood	blood
33	chr10:6132600-6134800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr10:6132600-6135000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:6132600-6135000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr10:6132600-6135000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr10:6132600-6135200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr10:6132600-6137600	Weak transcription	HSMM	muscle
39	chr10:6132600-6138600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:6132600-6139000	Weak transcription	Colonic Mucosa	Colon
41	chr10:6132600-6139200	Weak transcription	Pancreas	Pancrea
42	chr10:6132800-6133600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr10:6132800-6133600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:6132800-6133600	Weak transcription	Fetal Intestine Small	intestine
45	chr10:6132800-6133600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr10:6132800-6133800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr10:6132800-6133800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr10:6132800-6133800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr10:6132800-6134000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr10:6132800-6134000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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