Variant report

Variant	rs62461510
Chromosome Location	chr7:63970182-63970183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:63959858..63961962-chr7:63968204..63970636,2	MCF-7	breast:
2	chr7:63968985..63971890-chr7:63971952..63973743,2	K562	blood:

Variant related genes	Relation type
ENSG00000228653	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17138801	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17779194	1.00[AFR][1000 genomes]
rs17779236	1.00[AFR][1000 genomes]
rs17852813	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1976906	1.00[AFR][1000 genomes]
rs2902478	1.00[AFR][1000 genomes]
rs62461493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62461501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62461503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62461504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62461505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62461507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62461512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62461513	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62461515	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62461516	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62461517	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62461522	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62461525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62461527	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62461555	0.87[AMR][1000 genomes]
rs62461556	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62461557	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62461559	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62462860	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62462863	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62462864	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62462865	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62462867	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62462868	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62462869	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62462870	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62462874	1.00[AFR][1000 genomes]
rs62462875	1.00[AFR][1000 genomes]
rs62462876	1.00[AFR][1000 genomes]
rs62462912	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888255	chr7:63175168-63990100	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv888259	chr7:63363001-64009193	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv970855	chr7:63959414-64023731	ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63964600-63997800	ZNF genes & repeats	Liver	Liver
2	chr7:63965000-63970400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:63965000-63994800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:63966200-63997400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:63966400-63975000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:63966600-63981600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:63967400-63973600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:63967600-63989600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr7:63968600-63972000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:63968600-63972200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr7:63968800-63970400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr7:63968800-63970400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr7:63968800-63970400	ZNF genes & repeats	Fetal Lung	lung
14	chr7:63968800-63970400	ZNF genes & repeats	Ovary	ovary
15	chr7:63968800-63970600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:63968800-63970600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:63968800-63970600	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr7:63968800-63970600	ZNF genes & repeats	A549	lung
19	chr7:63968800-63971000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr7:63968800-63972000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr7:63968800-63972000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:63968800-63972000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:63968800-63972200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:63968800-63988200	ZNF genes & repeats	Dnd41	blood
25	chr7:63969000-63970200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
26	chr7:63969000-63970400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr7:63969000-63970400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
28	chr7:63969000-63970400	ZNF genes & repeats	Colon Smooth Muscle	Colon
29	chr7:63969000-63970400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr7:63969000-63970400	ZNF genes & repeats	Psoas Muscle	Psoas
31	chr7:63969000-63970400	ZNF genes & repeats	HSMM	muscle
32	chr7:63969000-63970600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
33	chr7:63969000-63970800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
34	chr7:63969000-63971800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:63969000-63972200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:63969000-63981600	Weak transcription	Right Ventricle	heart
37	chr7:63969000-63983600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr7:63969200-63970400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:63969200-63971000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:63969400-63970400	ZNF genes & repeats	NH-A	brain
41	chr7:63969400-63972200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:63969600-63970400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:63969600-63970400	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr7:63969600-63970400	ZNF genes & repeats	Left Ventricle	heart
45	chr7:63970000-63970200	ZNF genes & repeats	Brain Hippocampus Middle	brain
46	chr7:63970000-63970200	ZNF genes & repeats	Pancreas	Pancrea
47	chr7:63970000-63970200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
48	chr7:63970000-63970400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:63970000-63970400	ZNF genes & repeats	Aorta	Aorta
50	chr7:63970000-63970400	ZNF genes & repeats	Stomach Smooth Muscle	stomach

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