Variant report

Variant	rs62306510
Chromosome Location	chr4:87962634-87962635
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:87855522..87856205-chr4:87962520..87963050,2	MCF-7	breast:
2	chr4:87960365..87962821-chr4:87965345..87969600,5	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10489044	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10516787	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13109968	1.00[AFR][1000 genomes]
rs13110344	1.00[AFR][1000 genomes]
rs13136338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13136465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13140610	0.83[AFR][1000 genomes]
rs17702203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33983129	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34140562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34227282	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34709431	1.00[AFR][1000 genomes]
rs34745873	1.00[AFR][1000 genomes]
rs35182728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35245331	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35653846	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35812445	1.00[AFR][1000 genomes]
rs35849753	0.83[AFR][1000 genomes]
rs35886751	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41525049	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs431836	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62305658	1.00[AFR][1000 genomes]
rs62306466	1.00[AFR][1000 genomes]
rs62306480	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62306505	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62306508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62306509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62306511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62306514	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6853425	0.83[AFR][1000 genomes]
rs767314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87952400-87967000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr4:87952600-87968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:87953400-87965800	Weak transcription	Primary T cells from cord blood	blood
4	chr4:87953400-87967600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:87953800-87963600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:87954600-87963400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:87954600-87965800	Enhancers	Colon Smooth Muscle	Colon
8	chr4:87955600-87964800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr4:87956800-87963000	Enhancers	Rectal Smooth Muscle	rectum
10	chr4:87957000-87962800	Enhancers	Brain Anterior Caudate	brain
11	chr4:87958400-87963400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr4:87958600-87965800	Weak transcription	Fetal Intestine Small	intestine
13	chr4:87958800-87964200	Weak transcription	Spleen	Spleen
14	chr4:87958800-87968000	Weak transcription	Esophagus	oesophagus
15	chr4:87959200-87967000	Weak transcription	Dnd41	blood
16	chr4:87959400-87966400	Enhancers	Left Ventricle	heart
17	chr4:87959600-87967200	Enhancers	Psoas Muscle	Psoas
18	chr4:87959800-87966000	Weak transcription	Aorta	Aorta
19	chr4:87960000-87964800	Enhancers	Right Atrium	heart
20	chr4:87960200-87963400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:87960400-87963400	Weak transcription	Colonic Mucosa	Colon
22	chr4:87960400-87963600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:87960400-87964000	Enhancers	GM12878-XiMat	blood
24	chr4:87960400-87964200	Weak transcription	Gastric	stomach
25	chr4:87960400-87965600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:87960400-87965800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:87960400-87968000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:87960400-87975400	Weak transcription	Brain Germinal Matrix	brain
29	chr4:87960600-87963400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr4:87960600-87963400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:87960600-87963400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:87960600-87964200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr4:87960600-87965000	Enhancers	Brain Cingulate Gyrus	brain
34	chr4:87960600-87965000	Enhancers	Brain Hippocampus Middle	brain
35	chr4:87960600-87965600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:87960800-87962800	Weak transcription	Primary B cells from cord blood	blood
37	chr4:87960800-87962800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:87960800-87963200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:87960800-87963200	Weak transcription	A549	lung
40	chr4:87960800-87963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:87960800-87963400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:87960800-87963600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:87960800-87963600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:87960800-87963600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:87960800-87963600	Weak transcription	Fetal Thymus	thymus
46	chr4:87960800-87964000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:87960800-87964200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:87960800-87964200	Weak transcription	Fetal Intestine Large	intestine
49	chr4:87960800-87965400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:87960800-87965400	Weak transcription	Fetal Stomach	stomach

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