Variant report

Variant	rs10244757
Chromosome Location	chr7:7613592-7613593
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7606446..7610698-chr7:7610910..7617094,11	MCF-7	breast:
2	chr7:7610480..7614145-chr7:7617850..7622479,5	K562	blood:
3	chr7:7613150..7615499-chr7:7626781..7629641,2	K562	blood:
4	chr7:7601507..7604007-chr7:7611851..7613934,2	MCF-7	breast:
5	chr7:7612471..7615388-chr7:8317222..8318843,2	K562	blood:

Variant related genes	Relation type
ENSG00000272894	Chromatin interaction
ENSG00000164654	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10085615	1.00[AMR][1000 genomes]
rs10085678	1.00[AMR][1000 genomes]
rs10224056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10226442	1.00[AMR][1000 genomes]
rs10227544	1.00[AMR][1000 genomes]
rs10237888	1.00[AMR][1000 genomes]
rs10242691	1.00[AMR][1000 genomes]
rs10244335	1.00[AMR][1000 genomes]
rs10244366	1.00[AMR][1000 genomes]
rs10246309	1.00[AMR][1000 genomes]
rs10246969	1.00[EUR][1000 genomes]
rs10247226	1.00[AMR][1000 genomes]
rs10254036	1.00[EUR][1000 genomes]
rs10255581	1.00[AMR][1000 genomes]
rs10257117	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10257279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10257458	1.00[AMR][1000 genomes]
rs10258922	1.00[AMR][1000 genomes]
rs10259911	1.00[AMR][1000 genomes]
rs10262309	1.00[AMR][1000 genomes]
rs10265415	0.82[AFR][1000 genomes]
rs10266393	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267405	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10269709	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10273001	1.00[EUR][1000 genomes]
rs10278024	1.00[AMR][1000 genomes]
rs10280185	0.82[AFR][1000 genomes]
rs10282183	1.00[AMR][1000 genomes]
rs12333875	1.00[AMR][1000 genomes]
rs12334276	1.00[AMR][1000 genomes]
rs13438746	1.00[EUR][1000 genomes]
rs17168530	1.00[AMR][1000 genomes]
rs17168622	1.00[EUR][1000 genomes]
rs2348340	1.00[EUR][1000 genomes]
rs28422034	1.00[EUR][1000 genomes]
rs28442228	1.00[AMR][1000 genomes]
rs28488380	1.00[EUR][1000 genomes]
rs28535494	1.00[AMR][1000 genomes]
rs28564742	1.00[EUR][1000 genomes]
rs28565038	1.00[AMR][1000 genomes]
rs28602361	1.00[EUR][1000 genomes]
rs28602992	1.00[AMR][1000 genomes]
rs28681690	1.00[AMR][1000 genomes]
rs28706886	1.00[EUR][1000 genomes]
rs28712138	1.00[AMR][1000 genomes]
rs28842558	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56845168	1.00[EUR][1000 genomes]
rs57830645	1.00[EUR][1000 genomes]
rs60663837	1.00[EUR][1000 genomes]
rs61285017	1.00[EUR][1000 genomes]
rs6951703	1.00[AMR][1000 genomes]
rs73349819	1.00[EUR][1000 genomes]
rs73349821	1.00[EUR][1000 genomes]
rs73349832	1.00[EUR][1000 genomes]
rs73353651	1.00[EUR][1000 genomes]
rs7778417	1.00[AMR][1000 genomes]
rs7791164	1.00[AMR][1000 genomes]
rs7805479	1.00[AMR][1000 genomes]
rs7810456	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7607200-7648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:7607400-7646400	Weak transcription	Esophagus	oesophagus
3	chr7:7607400-7648200	Weak transcription	Lung	lung
4	chr7:7607600-7646400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:7607600-7648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:7607800-7621400	Weak transcription	Aorta	Aorta
7	chr7:7608200-7648800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:7608400-7630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:7608400-7648600	Weak transcription	NH-A	brain
10	chr7:7608800-7620600	Weak transcription	Fetal Stomach	stomach
11	chr7:7608800-7621200	Weak transcription	Fetal Intestine Small	intestine
12	chr7:7608800-7622200	Weak transcription	HUVEC	blood vessel
13	chr7:7608800-7635800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:7609000-7621000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:7609000-7621200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:7609200-7613800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:7609400-7621000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:7609400-7621000	Weak transcription	Brain Substantia Nigra	brain
19	chr7:7609400-7639400	Weak transcription	Fetal Heart	heart
20	chr7:7609400-7640800	Weak transcription	Stomach Mucosa	stomach
21	chr7:7609400-7645600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:7609400-7648400	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:7609400-7649000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:7609600-7621000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:7609600-7621200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:7609600-7621200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:7609600-7629000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:7609600-7630400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:7609600-7634600	Weak transcription	HepG2	liver
30	chr7:7609600-7641000	Weak transcription	Spleen	Spleen
31	chr7:7609600-7642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:7609600-7649000	Weak transcription	Right Ventricle	heart
33	chr7:7609600-7650400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:7609600-7651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:7609600-7652600	Weak transcription	Fetal Brain Male	brain
36	chr7:7609800-7615800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:7609800-7635800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:7609800-7648000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:7609800-7648800	Weak transcription	Brain Germinal Matrix	brain
40	chr7:7610000-7632200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:7610200-7615400	Strong transcription	Fetal Thymus	thymus
42	chr7:7610400-7615200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:7610400-7617800	Strong transcription	HSMM	muscle
44	chr7:7610400-7640800	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:7610600-7621000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:7610600-7621000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:7610600-7629200	Weak transcription	Brain Angular Gyrus	brain
48	chr7:7610600-7639400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:7610600-7648200	Weak transcription	Pancreas	Pancrea
50	chr7:7610600-7654400	Weak transcription	Gastric	stomach

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