Variant report

Variant	rs707994
Chromosome Location	chr6:36021261-36021262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36020440..36023292-chr6:36035204..36037797,2	K562	blood:
2	chr6:36019349..36024573-chr6:36034890..36038920,5	K562	blood:
3	chr6:36016800..36019592-chr6:36020549..36024503,3	MCF-7	breast:
4	chr6:35996936..35998552-chr6:36020582..36023178,2	K562	blood:

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

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

rs_ID	r²[population]
rs1100856	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1100857	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100860	0.86[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815806	1.00[CEU][hapmap];0.90[GIH][hapmap];0.95[TSI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815809	0.89[TSI][hapmap]
rs6457879	1.00[CEU][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73729674	1.00[ASN][1000 genomes]
rs851004	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851008	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851009	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851011	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851016	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851021	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851022	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851023	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851025	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs916344	0.93[CEU][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916345	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916346	0.81[CEU][hapmap];0.81[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv528432	chr6:35958871-36035354	Weak transcription Enhancers 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	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35997600-36021800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:35999000-36027600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:36000600-36027400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:36003200-36027200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:36003800-36027600	Weak transcription	Colonic Mucosa	Colon
6	chr6:36006400-36039800	Weak transcription	Esophagus	oesophagus
7	chr6:36007200-36021600	Weak transcription	Brain Anterior Caudate	brain
8	chr6:36007400-36021800	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:36007400-36027200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:36008000-36021800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:36008200-36022000	Weak transcription	Ovary	ovary
12	chr6:36008600-36022400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:36008600-36027600	Weak transcription	Brain Substantia Nigra	brain
14	chr6:36012400-36021800	Weak transcription	Osteobl	bone
15	chr6:36016800-36024200	Enhancers	Colon Smooth Muscle	Colon
16	chr6:36017800-36029400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:36018200-36027200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:36018200-36050000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:36018600-36021600	Weak transcription	Primary B cells from cord blood	blood
20	chr6:36018600-36026200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:36018600-36027200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:36018800-36021400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:36018800-36022400	Weak transcription	Thymus	Thymus
24	chr6:36018800-36027400	Weak transcription	NHEK	skin
25	chr6:36019000-36021800	Enhancers	Stomach Smooth Muscle	stomach
26	chr6:36019000-36022800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:36019000-36027600	Weak transcription	Brain Germinal Matrix	brain
28	chr6:36019200-36022200	Strong transcription	Primary hematopoietic stem cells	blood
29	chr6:36019200-36022600	Strong transcription	Fetal Intestine Large	intestine
30	chr6:36019200-36023000	Strong transcription	HSMM	muscle
31	chr6:36019200-36024000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr6:36019400-36022200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:36019400-36022400	Strong transcription	HepG2	liver
34	chr6:36019400-36022600	Weak transcription	Brain Angular Gyrus	brain
35	chr6:36019400-36022600	Weak transcription	Psoas Muscle	Psoas
36	chr6:36019400-36024600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr6:36019400-36026400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:36019400-36026400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:36019400-36026400	Weak transcription	Fetal Intestine Small	intestine
40	chr6:36019400-36027000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:36019400-36027200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:36019400-36027200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr6:36019400-36032600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr6:36019600-36021400	Weak transcription	Stomach Mucosa	stomach
45	chr6:36019600-36021400	Weak transcription	NH-A	brain
46	chr6:36019600-36021600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:36019600-36024800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:36019600-36027000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:36019600-36027400	Weak transcription	Pancreas	Pancrea
50	chr6:36019600-36027400	Weak transcription	Right Ventricle	heart

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