Variant report

Variant	rs941016
Chromosome Location	chr7:5646756-5646757
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5630892..5633820-chr7:5645998..5647917,2	MCF-7	breast:
2	chr7:5562685..5565302-chr7:5645935..5647635,2	MCF-7	breast:
3	chr7:5645477..5648196-chr7:5732391..5735372,2	K562	blood:
4	chr7:5640719..5643074-chr7:5645927..5648207,2	MCF-7	breast:
5	chr7:5644809..5647806-chr7:5648776..5650378,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075618	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10271741	0.81[ASN][1000 genomes]
rs10807950	0.94[ASN][1000 genomes]
rs10951961	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11763027	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1628786	0.85[AMR][1000 genomes]
rs1640231	0.89[ASN][1000 genomes]
rs1725186	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1725187	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1990835	0.94[ASN][1000 genomes]
rs2112008	0.94[ASN][1000 genomes]
rs2161012	0.94[ASN][1000 genomes]
rs2345863	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2345864	0.94[ASN][1000 genomes]
rs2693951	0.85[AMR][1000 genomes]
rs2881234	0.82[ASN][1000 genomes]
rs2908430	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735288	1.00[ASN][1000 genomes]
rs3857756	0.82[ASN][1000 genomes]
rs4720636	0.94[ASN][1000 genomes]
rs4720639	0.94[ASN][1000 genomes]
rs4724714	0.94[ASN][1000 genomes]
rs4724716	0.94[ASN][1000 genomes]
rs4724720	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4724721	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4724723	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455878	0.81[ASN][1000 genomes]
rs6463508	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6463511	1.00[EUR][1000 genomes]
rs6463515	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6944453	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6947405	0.94[ASN][1000 genomes]
rs6956990	0.94[ASN][1000 genomes]
rs6969486	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs710939	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs710940	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710942	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784394	0.94[ASN][1000 genomes]
rs7790499	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852261	0.94[ASN][1000 genomes]
rs852262	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852264	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852378	1.00[ASN][1000 genomes]
rs852381	0.85[AMR][1000 genomes]
rs852383	0.85[AMR][1000 genomes]
rs852393	0.94[ASN][1000 genomes]
rs852395	0.94[ASN][1000 genomes]
rs852398	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852399	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852401	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs852403	0.94[ASN][1000 genomes]
rs852404	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852405	0.94[ASN][1000 genomes]
rs852407	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs852408	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852411	0.94[ASN][1000 genomes]
rs852412	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852413	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852414	0.94[ASN][1000 genomes]
rs852416	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852418	1.00[ASN][1000 genomes]
rs852419	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852438	1.00[ASN][1000 genomes]
rs852439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852442	1.00[ASN][1000 genomes]
rs852443	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852449	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852451	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852455	1.00[ASN][1000 genomes]
rs852458	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852459	1.00[ASN][1000 genomes]
rs852460	1.00[ASN][1000 genomes]
rs852462	1.00[ASN][1000 genomes]
rs852465	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852466	1.00[ASN][1000 genomes]
rs852467	1.00[ASN][1000 genomes]
rs852469	1.00[ASN][1000 genomes]
rs852471	1.00[ASN][1000 genomes]
rs852474	0.94[ASN][1000 genomes]
rs852475	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852476	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852477	1.00[ASN][1000 genomes]
rs852480	0.85[AMR][1000 genomes]
rs852487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852490	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852495	0.85[AMR][1000 genomes]
rs852514	1.00[ASN][1000 genomes]
rs852515	0.89[ASN][1000 genomes]
rs852518	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852521	1.00[ASN][1000 genomes]
rs852523	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852524	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852525	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852536	0.85[AMR][1000 genomes]
rs852541	0.85[AMR][1000 genomes]
rs852543	0.85[AMR][1000 genomes]
rs852544	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS 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
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription 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	44 gene(s)	inside rSNPs	diseases
21	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
22	nsv819922	chr7:5642878-5647466	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5636200-5662000	Weak transcription	Fetal Kidney	kidney
2	chr7:5636600-5661400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:5636800-5661200	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:5638400-5648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:5638400-5659000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:5638800-5661200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:5638800-5671000	Weak transcription	Right Atrium	heart
8	chr7:5639000-5655200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:5639000-5661200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:5639200-5647600	Weak transcription	Stomach Mucosa	stomach
11	chr7:5639600-5648600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:5641200-5648400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:5641600-5659000	Weak transcription	Thymus	Thymus
14	chr7:5641800-5648400	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:5641800-5648600	Strong transcription	Fetal Intestine Small	intestine
16	chr7:5641800-5648600	Strong transcription	NHLF	lung
17	chr7:5642000-5647000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:5642000-5648400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:5642000-5648400	Genic enhancers	Fetal Muscle Trunk	muscle
20	chr7:5642000-5648600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:5642000-5650600	Genic enhancers	Fetal Muscle Leg	muscle
22	chr7:5642200-5648400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:5642200-5648400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:5642200-5653400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:5642400-5647000	Strong transcription	Fetal Brain Female	brain
26	chr7:5642400-5647200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:5642600-5646800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:5642600-5646800	Strong transcription	Brain Germinal Matrix	brain
29	chr7:5642600-5647200	Strong transcription	Lung	lung
30	chr7:5642600-5647400	Strong transcription	Ovary	ovary
31	chr7:5642800-5647400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:5642800-5647400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:5642800-5664800	Weak transcription	Hela-S3	cervix
34	chr7:5643200-5647400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:5643400-5648000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:5643600-5660000	Weak transcription	Colonic Mucosa	Colon
37	chr7:5643800-5646800	Weak transcription	Brain Angular Gyrus	brain
38	chr7:5643800-5648200	Weak transcription	K562	blood
39	chr7:5643800-5649000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:5643800-5649000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:5643800-5649000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:5643800-5649200	Weak transcription	HepG2	liver
43	chr7:5643800-5650200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:5643800-5653200	Weak transcription	HSMMtube	muscle
45	chr7:5643800-5660400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr7:5643800-5661200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:5644000-5659200	Weak transcription	Pancreas	Pancrea
48	chr7:5644600-5648600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:5645000-5646800	Weak transcription	Right Ventricle	heart
50	chr7:5645000-5648200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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