Variant report

Variant	rs61046711
Chromosome Location	chr7:64024202-64024203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:64022607-64024584	SK-N-SH	brain:	n/a	n/a
2	RFX5	chr7:64022570-64024712	SK-N-SH	brain:	n/a	chr7:64023529-64023538

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:63772917..63775872-chr7:64021942..64025037,3	MCF-7	breast:
2	chr7:64022429..64024303-chr7:64027221..64029382,2	K562	blood:

Variant related genes	Relation type
ZNF680	TF binding region
ENSG00000234444	Chromatin interaction
ENSG00000235349	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1018581	0.80[ASN][1000 genomes]
rs10266644	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10272999	0.90[ASN][1000 genomes]
rs10279359	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11973673	0.87[ASN][1000 genomes]
rs11979336	0.91[ASN][1000 genomes]
rs12674124	0.81[ASN][1000 genomes]
rs13229310	0.90[ASN][1000 genomes]
rs17146392	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17540510	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2127039	0.88[ASN][1000 genomes]
rs28620773	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4717195	0.81[ASN][1000 genomes]
rs4717201	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57323647	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57553713	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57810730	0.83[ASN][1000 genomes]
rs59201436	0.80[AMR][1000 genomes]
rs59243255	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59589273	0.83[AMR][1000 genomes]
rs59617471	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61088649	0.93[ASN][1000 genomes]
rs61306561	0.84[ASN][1000 genomes]
rs61376194	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72503385	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72503386	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72503388	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73355704	0.82[ASN][1000 genomes]
rs73355715	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429759	chr7:63662150-64110550	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv429760	chr7:63687850-64110550	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv429761	chr7:63747498-64096138	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
7	nsv429762	chr7:63790450-64110550	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
9	nsv1031703	chr7:63839601-64225952	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv1023042	chr7:63956027-64116232	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
14	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
15	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
16	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
17	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	nsv1021893	chr7:63995601-64155027	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
19	nsv538892	chr7:63995601-64155027	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
20	nsv888277	chr7:64023581-64054804	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64022400-64024400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:64022400-64024400	Active TSS	Osteobl	bone
3	chr7:64022600-64024400	Active TSS	A549	lung
4	chr7:64023600-64024400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:64023600-64029800	Weak transcription	Gastric	stomach
6	chr7:64023600-64029800	Weak transcription	Pancreas	Pancrea
7	chr7:64023800-64024600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:64023800-64029400	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:64023800-64029400	Weak transcription	Stomach Mucosa	stomach
10	chr7:64023800-64029600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:64023800-64029600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:64023800-64029600	Weak transcription	Left Ventricle	heart
13	chr7:64024000-64024400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:64024000-64024400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:64024000-64024400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr7:64024000-64024600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr7:64024000-64024600	Enhancers	Ovary	ovary
18	chr7:64024000-64024600	Flanking Active TSS	Dnd41	blood
19	chr7:64024200-64024400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:64024200-64024400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:64024200-64024400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:64024200-64024400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr7:64024200-64024400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr7:64024200-64024400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:64024200-64024400	Enhancers	Hela-S3	cervix
26	chr7:64024200-64024400	Flanking Active TSS	HepG2	liver
27	chr7:64024200-64024600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:64024200-64024600	Enhancers	Brain Anterior Caudate	brain
29	chr7:64024200-64024600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:64024200-64029200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:64024200-64029400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr7:64024200-64029600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:64024200-64029600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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