Variant report

Variant	rs10251561
Chromosome Location	chr7:103825452-103825453
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103825084..103829055-chr7:103846776..103849865,4	MCF-7	breast:
2	chr7:103810117..103812021-chr7:103825452..103828315,2	K562	blood:

Variant related genes	Relation type
ENSG00000164815	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1019312	1.00[EUR][1000 genomes]
rs10234499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10235130	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10235201	1.00[EUR][1000 genomes]
rs10239859	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10240040	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241191	1.00[EUR][1000 genomes]
rs10242752	1.00[EUR][1000 genomes]
rs10250235	1.00[EUR][1000 genomes]
rs10251308	1.00[EUR][1000 genomes]
rs10255806	1.00[EUR][1000 genomes]
rs10256764	1.00[EUR][1000 genomes]
rs10258773	1.00[EUR][1000 genomes]
rs10262560	1.00[EUR][1000 genomes]
rs10262796	1.00[EUR][1000 genomes]
rs10262996	1.00[EUR][1000 genomes]
rs10263828	1.00[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10266337	1.00[EUR][1000 genomes]
rs10267412	1.00[EUR][1000 genomes]
rs10267940	1.00[EUR][1000 genomes]
rs10268209	1.00[EUR][1000 genomes]
rs10270562	1.00[EUR][1000 genomes]
rs10271923	1.00[EUR][1000 genomes]
rs10272659	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10275484	0.87[ASW][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10278320	1.00[EUR][1000 genomes]
rs10279736	1.00[EUR][1000 genomes]
rs10279892	0.83[MKK][hapmap]
rs10281709	1.00[EUR][1000 genomes]
rs10282300	1.00[EUR][1000 genomes]
rs10487184	1.00[EUR][1000 genomes]
rs11489610	1.00[EUR][1000 genomes]
rs11972422	1.00[EUR][1000 genomes]
rs11979390	1.00[EUR][1000 genomes]
rs11979993	1.00[EUR][1000 genomes]
rs11980018	1.00[EUR][1000 genomes]
rs12112576	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16873387	1.00[EUR][1000 genomes]
rs16873424	0.83[MKK][hapmap]
rs17133246	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158586	1.00[EUR][1000 genomes]
rs17159290	1.00[EUR][1000 genomes]
rs17159774	1.00[EUR][1000 genomes]
rs2307409	0.87[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2385134	1.00[EUR][1000 genomes]
rs28481813	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28644319	1.00[EUR][1000 genomes]
rs28645598	1.00[EUR][1000 genomes]
rs28686914	1.00[EUR][1000 genomes]
rs28702500	1.00[EUR][1000 genomes]
rs28773535	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779518	0.82[LWK][hapmap]
rs58842751	1.00[EUR][1000 genomes]
rs59290626	0.97[AFR][1000 genomes]
rs59750244	1.00[EUR][1000 genomes]
rs6948021	1.00[EUR][1000 genomes]
rs6954109	1.00[EUR][1000 genomes]
rs6962621	1.00[EUR][1000 genomes]
rs6967711	1.00[EUR][1000 genomes]
rs6975642	1.00[EUR][1000 genomes]
rs73413894	1.00[EUR][1000 genomes]
rs73415730	1.00[EUR][1000 genomes]
rs73415786	1.00[EUR][1000 genomes]
rs73415801	1.00[EUR][1000 genomes]
rs73417705	1.00[EUR][1000 genomes]
rs73417718	1.00[EUR][1000 genomes]
rs7777446	1.00[EUR][1000 genomes]
rs7777906	1.00[EUR][1000 genomes]
rs7810496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9655777	1.00[EUR][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	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103764000-103829800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:103765600-103840200	Weak transcription	Small Intestine	intestine
3	chr7:103766200-103838400	Weak transcription	Spleen	Spleen
4	chr7:103767200-103829200	Weak transcription	Gastric	stomach
5	chr7:103767200-103843600	Weak transcription	Right Ventricle	heart
6	chr7:103775200-103829200	Weak transcription	Lung	lung
7	chr7:103796400-103843600	Weak transcription	Fetal Brain Male	brain
8	chr7:103797200-103847000	Weak transcription	Fetal Heart	heart
9	chr7:103798400-103829600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:103800800-103829600	Weak transcription	NHLF	lung
11	chr7:103802200-103838600	Weak transcription	Psoas Muscle	Psoas
12	chr7:103809400-103838200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:103815400-103839200	Weak transcription	Colonic Mucosa	Colon
14	chr7:103815600-103829200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:103815600-103829200	Weak transcription	Aorta	Aorta
16	chr7:103815600-103838400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:103816000-103846200	Weak transcription	Stomach Mucosa	stomach
18	chr7:103816800-103836600	Weak transcription	Brain Substantia Nigra	brain
19	chr7:103817400-103827800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:103818200-103829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:103818600-103832400	Strong transcription	Liver	Liver
22	chr7:103818600-103839600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:103818800-103832800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:103819000-103832400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:103819000-103838400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:103819200-103830800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:103819600-103825600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:103819600-103830400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr7:103820200-103825600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:103820400-103832400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:103820600-103827600	Weak transcription	HMEC	breast
32	chr7:103820600-103829800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr7:103820800-103829200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:103820800-103829200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:103821400-103829200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:103821800-103825600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:103821800-103826800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:103821800-103839400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:103822000-103825600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:103822000-103826000	Strong transcription	Primary T cells from cord blood	blood
41	chr7:103822000-103845400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:103822200-103825600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:103822200-103825600	Strong transcription	Placenta	Placenta
44	chr7:103822200-103825800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr7:103822200-103826000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr7:103822200-103836400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:103822400-103825600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:103822400-103825600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr7:103822400-103830400	Strong transcription	HepG2	liver
50	chr7:103822600-103825600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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