Variant report

Variant	rs652318
Chromosome Location	chr10:6208465-6208466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6150169..6152126-chr10:6207910..6209598,2	K562	blood:
2	chr10:6202871..6212786-chr10:6240811..6248696,29	MCF-7	breast:
3	chr10:6203753..6210403-chr10:6228380..6234446,7	MCF-7	breast:
4	chr10:6128980..6130903-chr10:6206068..6209123,3	K562	blood:
5	chr10:6204009..6209137-chr10:6241452..6247054,19	MCF-7	breast:
6	chr10:6129123..6132271-chr10:6205782..6209123,3	K562	blood:
7	chr10:6207823..6209426-chr10:6222499..6224983,2	K562	blood:

Variant related genes	Relation type
ENSG00000170525	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000213994	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12572233	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12572255	0.86[EUR][1000 genomes]
rs605015	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs609587	0.99[EUR][1000 genomes]
rs613960	0.90[CEU][hapmap];0.96[GIH][hapmap];0.92[LWK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs629298	0.85[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs641736	0.95[CEU][hapmap];0.96[GIH][hapmap];0.92[LWK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs642104	0.89[ASW][hapmap];0.86[CEU][hapmap];0.89[GIH][hapmap];0.93[LWK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs643503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643867	0.95[CEU][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs653265	0.95[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs654876	0.85[CEU][hapmap];0.96[EUR][1000 genomes]
rs657523	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs657600	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs658386	0.90[CEU][hapmap];0.96[GIH][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs668796	0.95[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs669534	0.90[CEU][hapmap];0.96[GIH][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs7896238	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic 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 miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv894817	chr10:6173416-6251252	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6188400-6225200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:6206400-6210400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:6206600-6210200	Weak transcription	Esophagus	oesophagus
4	chr10:6206600-6210200	Weak transcription	Ovary	ovary
5	chr10:6206600-6220000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr10:6206800-6208600	Weak transcription	Gastric	stomach
7	chr10:6206800-6208800	Enhancers	Right Atrium	heart
8	chr10:6206800-6211200	Weak transcription	Aorta	Aorta
9	chr10:6206800-6211800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr10:6206800-6212600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:6206800-6213600	Weak transcription	HSMM	muscle
12	chr10:6207000-6208800	Enhancers	Psoas Muscle	Psoas
13	chr10:6207000-6210200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:6207000-6210400	Genic enhancers	Dnd41	blood
15	chr10:6207000-6211400	Weak transcription	Stomach Mucosa	stomach
16	chr10:6207000-6211800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr10:6207000-6212600	Weak transcription	NH-A	brain
18	chr10:6207000-6212800	Weak transcription	Osteobl	bone
19	chr10:6207000-6213400	Weak transcription	HSMMtube	muscle
20	chr10:6207000-6213800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:6207000-6213800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:6207000-6214000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr10:6207000-6214800	Weak transcription	Colonic Mucosa	Colon
24	chr10:6207000-6218600	Weak transcription	Fetal Lung	lung
25	chr10:6207000-6219000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr10:6207000-6219400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr10:6207000-6244400	Weak transcription	Hela-S3	cervix
28	chr10:6207200-6209200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr10:6207200-6211800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:6207200-6214200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr10:6207200-6217800	Weak transcription	HMEC	breast
32	chr10:6207200-6218800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:6207400-6208800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr10:6207400-6210600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:6207400-6211400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:6207400-6211800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr10:6207600-6208600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:6207600-6208800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr10:6207600-6209000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr10:6207600-6209200	Weak transcription	Primary B cells from cord blood	blood
41	chr10:6207600-6209600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr10:6207600-6209800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr10:6207600-6209800	Weak transcription	NHLF	lung
44	chr10:6207600-6210600	Weak transcription	Right Ventricle	heart
45	chr10:6207600-6211200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr10:6207600-6211400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr10:6207600-6211400	Weak transcription	HUVEC	blood vessel
48	chr10:6207600-6211600	Weak transcription	Liver	Liver
49	chr10:6207600-6211600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr10:6207600-6212600	Weak transcription	Brain Cingulate Gyrus	brain

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