Variant report

Variant	rs462194
Chromosome Location	chr6:34306480-34306481
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34304154..34306840-chr6:34357586..34359775,2	MCF-7	breast:
2	chr6:34305355..34307280-chr6:34313931..34315752,2	MCF-7	breast:
3	chr6:34300486..34302209-chr6:34305816..34308305,2	MCF-7	breast:
4	chr6:34305147..34308643-chr6:34314207..34316952,4	K562	blood:
5	chr6:34305250..34307284-chr6:34307723..34310637,2	MCF-7	breast:
6	chr6:34303886..34306765-chr6:34314497..34316952,3	K562	blood:
7	chr6:34206295..34208546-chr6:34304125..34306595,2	K562	blood:
8	chr6:34305135..34307781-chr6:34356782..34358757,2	MCF-7	breast:
9	chr6:34289970..34292350-chr6:34305042..34307455,2	MCF-7	breast:
10	chr6:34206295..34209813-chr6:34303661..34306595,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137309	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10947509	1.00[AMR][1000 genomes]
rs172280	1.00[YRI][hapmap]
rs182280	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1889733	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs206922	1.00[YRI][hapmap]
rs206928	1.00[YRI][hapmap]
rs206929	1.00[AMR][1000 genomes]
rs206931	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs206932	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs206933	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs206934	1.00[AMR][1000 genomes]
rs206938	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs206939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs206940	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2395557	1.00[AMR][1000 genomes]
rs2395558	1.00[AMR][1000 genomes]
rs2395563	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2395565	1.00[AMR][1000 genomes]
rs2395566	1.00[AMR][1000 genomes]
rs2840286	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs3843524	1.00[AMR][1000 genomes]
rs3846865	1.00[AMR][1000 genomes]
rs3846870	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs3857561	1.00[AMR][1000 genomes]
rs443351	1.00[AMR][1000 genomes]
rs453919	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs460389	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs466031	1.00[YRI][hapmap]
rs4713778	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6457780	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6457782	1.00[AMR][1000 genomes]
rs6908420	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6918865	1.00[AMR][1000 genomes]
rs7760590	1.00[AMR][1000 genomes]
rs7773372	1.00[YRI][hapmap]
rs7774674	1.00[AMR][1000 genomes]
rs9394233	1.00[YRI][hapmap]
rs9461986	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798756	chr6:34203406-34319041	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv1798835	chr6:34204183-34319041	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv1792088	chr6:34204285-34318837	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1793127	chr6:34204285-34319041	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv1794528	chr6:34267024-34308816	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34261800-34330800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:34274400-34309000	Weak transcription	NHDF-Ad	bronchial
3	chr6:34284000-34308200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:34284800-34310800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:34285200-34330600	Weak transcription	Thymus	Thymus
6	chr6:34285400-34307800	Weak transcription	Liver	Liver
7	chr6:34285800-34308800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:34285800-34326600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:34286000-34308200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:34287600-34309200	Weak transcription	Pancreas	Pancrea
11	chr6:34289000-34325200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:34289400-34308200	Weak transcription	Fetal Intestine Large	intestine
13	chr6:34291800-34307000	Weak transcription	Hela-S3	cervix
14	chr6:34292600-34308200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:34293000-34308200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:34293400-34307600	Weak transcription	Fetal Thymus	thymus
17	chr6:34294000-34308800	Weak transcription	NH-A	brain
18	chr6:34296200-34309400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:34297400-34312800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr6:34298600-34326400	Weak transcription	A549	lung
21	chr6:34298800-34306800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:34299400-34310800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:34299800-34308800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:34301000-34307000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:34301200-34306800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:34301600-34318000	Weak transcription	Fetal Brain Female	brain
27	chr6:34301800-34307000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:34302000-34308200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:34302400-34307200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:34302600-34306800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:34303000-34306600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:34303000-34308600	Weak transcription	NHLF	lung
33	chr6:34303000-34312800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:34303200-34307600	Weak transcription	Osteobl	bone
35	chr6:34304000-34307400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr6:34304400-34307800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:34304600-34307600	Enhancers	HUVEC	blood vessel
38	chr6:34304600-34310400	Enhancers	Colon Smooth Muscle	Colon
39	chr6:34304600-34310600	Enhancers	Rectal Smooth Muscle	rectum
40	chr6:34304800-34308400	Enhancers	Brain Anterior Caudate	brain
41	chr6:34304800-34310200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:34305000-34307200	Enhancers	Aorta	Aorta
43	chr6:34305000-34307400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:34305000-34307400	Enhancers	Brain Hippocampus Middle	brain
45	chr6:34305000-34307400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr6:34305000-34307600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr6:34305000-34307600	Enhancers	Brain Cingulate Gyrus	brain
48	chr6:34305000-34307600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr6:34305000-34307800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:34305000-34310600	Enhancers	Fetal Heart	heart

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