Variant report

Variant	rs620493
Chromosome Location	chr6:36004599-36004600
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35995831..35997886-chr6:36004325..36006384,2	MCF-7	breast:
2	chr6:36004256..36008488-chr6:36021572..36023371,4	K562	blood:
3	chr6:36003182..36006144-chr6:36044765..36047625,2	K562	blood:

Variant related genes	Relation type
ENSG00000112062	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2237095	1.00[EUR][1000 genomes]
rs2815805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2859144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs584884	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58604706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs596446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs603869	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs611846	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs612049	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61764190	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs620491	1.00[EUR][1000 genomes]
rs626386	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs686431	1.00[EUR][1000 genomes]
rs6940239	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7742178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7750653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7764721	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7768950	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7768956	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7770710	1.00[EUR][1000 genomes]
rs7774786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7774934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9462156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9462157	1.00[EUR][1000 genomes]
rs9470200	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470207	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35997600-36005400	Weak transcription	Aorta	Aorta
2	chr6:35997600-36005400	Weak transcription	Left Ventricle	heart
3	chr6:35997600-36008800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr6:35997600-36010800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr6:35997600-36021800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:35998000-36007400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr6:35998000-36019200	Weak transcription	HSMM	muscle
8	chr6:35998200-36006000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:35998200-36006600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:35998200-36018400	Weak transcription	NHLF	lung
11	chr6:35998200-36018600	Weak transcription	NHDF-Ad	bronchial
12	chr6:35998600-36007400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:35998800-36005600	Weak transcription	Fetal Brain Female	brain
14	chr6:35998800-36008800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr6:35999000-36027600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:36000400-36005400	Weak transcription	HUVEC	blood vessel
17	chr6:36000600-36005200	Weak transcription	Fetal Kidney	kidney
18	chr6:36000600-36005600	Weak transcription	Fetal Intestine Large	intestine
19	chr6:36000600-36005800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:36000600-36006000	Weak transcription	Dnd41	blood
21	chr6:36000600-36009800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:36000600-36020400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:36000600-36027400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:36000800-36009200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:36001600-36006000	Weak transcription	Lung	lung
26	chr6:36001800-36005400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:36001800-36005600	Enhancers	Primary hematopoietic stem cells	blood
28	chr6:36001800-36005800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:36002000-36005000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr6:36002000-36005000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:36002000-36005000	Weak transcription	Thymus	Thymus
32	chr6:36002000-36005200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:36002000-36005400	Weak transcription	Esophagus	oesophagus
34	chr6:36002000-36005600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:36002000-36006200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:36002200-36005200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:36002200-36005400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:36002200-36006000	Weak transcription	Osteobl	bone
39	chr6:36002400-36005400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:36002400-36005400	Weak transcription	Psoas Muscle	Psoas
41	chr6:36002400-36005400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr6:36002400-36005400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:36002400-36005800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:36002400-36006000	Weak transcription	Brain Anterior Caudate	brain
45	chr6:36002400-36006000	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:36002400-36006000	Weak transcription	HMEC	breast
47	chr6:36002600-36005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:36002600-36005200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr6:36002600-36005400	Weak transcription	Primary B cells from cord blood	blood
50	chr6:36002600-36005600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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