Variant report

Variant	rs61084750
Chromosome Location	chr1:70805094-70805095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70803895..70805933-chr1:70875287..70878177,2	K562	blood:
2	chr1:70803471..70806193-chr1:70890743..70892737,2	K562	blood:
3	chr1:70799977..70802137-chr1:70803944..70806998,3	K562	blood:

Variant related genes	Relation type
ENSG00000116761	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10889867	0.86[AFR][1000 genomes]
rs56688715	1.00[AMR][1000 genomes]
rs57480626	1.00[AFR][1000 genomes]
rs57627286	1.00[AMR][1000 genomes]
rs57928672	1.00[AMR][1000 genomes]
rs59856193	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61493071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917819	1.00[AMR][1000 genomes]
rs72917823	1.00[AMR][1000 genomes]
rs72921081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929203	1.00[AMR][1000 genomes]
rs72929206	1.00[AMR][1000 genomes]
rs72929207	1.00[AMR][1000 genomes]
rs72929211	1.00[AMR][1000 genomes]
rs72929214	1.00[AMR][1000 genomes]
rs72929215	1.00[AMR][1000 genomes]
rs72929225	1.00[AMR][1000 genomes]
rs72929226	1.00[AMR][1000 genomes]
rs72929228	1.00[AMR][1000 genomes]
rs72929237	1.00[AMR][1000 genomes]
rs72929241	1.00[AMR][1000 genomes]
rs72929267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929270	1.00[AFR][1000 genomes]
rs72929272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929274	1.00[AFR][1000 genomes]
rs72929275	1.00[AFR][1000 genomes]
rs72929277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929291	1.00[AFR][1000 genomes]
rs72929299	1.00[AFR][1000 genomes];1.00[AMR][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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv1012563	chr1:70753332-70832118	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1792702	chr1:70755511-70818576	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv1801665	chr1:70755511-70832053	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv871430	chr1:70765659-70819912	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:70734400-70813000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:70757400-70813200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:70757800-70812400	Weak transcription	Fetal Brain Male	brain
6	chr1:70760400-70813200	Weak transcription	Fetal Brain Female	brain
7	chr1:70760600-70818200	Weak transcription	Aorta	Aorta
8	chr1:70760600-70818600	Weak transcription	Thymus	Thymus
9	chr1:70762000-70817600	Weak transcription	NHLF	lung
10	chr1:70762200-70818200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:70765600-70818200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:70765800-70812200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:70767800-70819000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:70768200-70817000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:70770400-70809200	Weak transcription	Ovary	ovary
16	chr1:70770400-70817200	Weak transcription	Pancreas	Pancrea
17	chr1:70773600-70818200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:70773800-70818200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:70774200-70815200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:70774200-70818000	Weak transcription	Fetal Kidney	kidney
21	chr1:70781200-70805400	Weak transcription	Brain Substantia Nigra	brain
22	chr1:70783800-70809000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:70784200-70813200	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:70784200-70817400	Weak transcription	Small Intestine	intestine
25	chr1:70786200-70808600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:70787400-70817600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:70788600-70813200	Weak transcription	GM12878-XiMat	blood
28	chr1:70788600-70818200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:70789000-70813000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:70789000-70813200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:70789000-70816000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:70789200-70818200	Weak transcription	Right Atrium	heart
33	chr1:70790200-70813000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:70790400-70812200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:70790600-70813000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:70790600-70815400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:70790600-70816400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:70790600-70818000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:70790600-70818400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:70793600-70818000	Weak transcription	NH-A	brain
41	chr1:70793800-70813200	Weak transcription	Gastric	stomach
42	chr1:70794200-70810200	Weak transcription	Hela-S3	cervix
43	chr1:70794400-70818000	Weak transcription	HMEC	breast
44	chr1:70796200-70809200	Weak transcription	Psoas Muscle	Psoas
45	chr1:70797800-70815800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:70798000-70806000	Weak transcription	A549	lung
47	chr1:70798000-70815000	Weak transcription	NHEK	skin
48	chr1:70798000-70816400	Weak transcription	Brain Anterior Caudate	brain
49	chr1:70799400-70815000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:70799400-70818000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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