Variant report

Variant	rs61611428
Chromosome Location	chr7:100050887-100050888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100025416..100029522-chr7:100050389..100054070,6	K562	blood:
2	chr7:100049858..100052671-chr7:100073207..100075345,2	MCF-7	breast:
3	chr7:100050536..100052205-chr7:100251805..100253481,2	K562	blood:

Variant related genes	Relation type
ENSG00000146834	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000077080	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10256481	1.00[AMR][1000 genomes]
rs57310628	1.00[AMR][1000 genomes]
rs58497263	1.00[AMR][1000 genomes]
rs59251177	1.00[AMR][1000 genomes]
rs61246011	1.00[AMR][1000 genomes]
rs68049253	1.00[AMR][1000 genomes]
rs6958977	1.00[AMR][1000 genomes]
rs6968343	1.00[AMR][1000 genomes]
rs6970350	1.00[AMR][1000 genomes]
rs73399601	1.00[AMR][1000 genomes]
rs73401410	1.00[AMR][1000 genomes]
rs73401448	1.00[AMR][1000 genomes]
rs73401452	1.00[AMR][1000 genomes]
rs73401466	1.00[AMR][1000 genomes]
rs73401469	1.00[AMR][1000 genomes]
rs73401478	1.00[AMR][1000 genomes]
rs73403324	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7796885	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv527107	chr7:100014711-100064719	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	269 gene(s)	inside rSNPs	diseases
5	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription 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 target site	297 gene(s)	inside rSNPs	diseases
6	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
7	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
8	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
9	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv984550	chr7:100034415-100080060	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100048400-100053600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:100048400-100062800	Weak transcription	Fetal Heart	heart
3	chr7:100048600-100051000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:100048600-100051200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:100048600-100051400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:100048600-100051400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr7:100048600-100051400	Weak transcription	Spleen	Spleen
8	chr7:100048600-100051400	Weak transcription	Dnd41	blood
9	chr7:100048600-100051600	Weak transcription	Primary T cells from cord blood	blood
10	chr7:100048600-100051600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:100048600-100051600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:100048600-100051600	Weak transcription	Thymus	Thymus
13	chr7:100048600-100052200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:100048600-100052200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:100048600-100052200	Weak transcription	HUVEC	blood vessel
16	chr7:100048600-100052400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:100048600-100052400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:100048600-100052400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:100048600-100053000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:100048600-100053400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:100048600-100053400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:100048600-100053400	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:100048600-100053600	Weak transcription	Brain Substantia Nigra	brain
24	chr7:100048600-100053600	Weak transcription	Lung	lung
25	chr7:100048600-100053800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:100048600-100053800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:100048600-100053800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:100048600-100054000	Weak transcription	Brain Angular Gyrus	brain
29	chr7:100048600-100055800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:100048600-100055800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr7:100048600-100057200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:100048600-100058000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:100048600-100058000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:100048600-100058200	Weak transcription	Primary B cells from cord blood	blood
35	chr7:100048600-100058400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:100048600-100060200	Weak transcription	Brain Germinal Matrix	brain
37	chr7:100048600-100060800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:100048600-100060800	Weak transcription	NHDF-Ad	bronchial
39	chr7:100048600-100061000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:100048600-100061000	Weak transcription	Esophagus	oesophagus
41	chr7:100048600-100061000	Weak transcription	HSMM	muscle
42	chr7:100048600-100061200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:100048600-100061200	Weak transcription	NHLF	lung
44	chr7:100048600-100063000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:100048600-100063200	Weak transcription	Osteobl	bone
46	chr7:100048600-100063600	Weak transcription	Ovary	ovary
47	chr7:100048600-100064200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:100048600-100064400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr7:100048600-100064800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:100048600-100064800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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