Variant report

Variant	rs6740143
Chromosome Location	chr2:85908988-85908989
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	FOSL1	chr2:85907989-85909039	HCT-116	colon:	n/a	n/a
2	SMARCC1	chr2:85907829-85909054	Hela-S3	cervix:	n/a	n/a
3	JUND	chr2:85908251-85909107	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:85905086..85909626-chr2:85912458..85918293,6	K562	blood:

Variant related genes	Relation type
GNLY	TF binding region
ENSG00000203363	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs55982993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59153844	0.95[AFR][1000 genomes]
rs59875598	0.90[AFR][1000 genomes]
rs59944166	0.90[AFR][1000 genomes]
rs6547630	0.95[AFR][1000 genomes]
rs6733404	0.90[AFR][1000 genomes]
rs72925004	0.90[AFR][1000 genomes]
rs72925006	0.86[AFR][1000 genomes]
rs72925023	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7563758	0.91[AFR][1000 genomes]
rs7598517	0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7600804	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874459	chr2:85828014-85939207	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
2	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv874461	chr2:85853653-85939207	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv874462	chr2:85853653-85941074	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv874463	chr2:85853653-85946708	Strong transcription Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv874465	chr2:85898898-85939207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv2812	chr2:85899944-85929267	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85903400-85909800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:85905600-85909200	Enhancers	Lung	lung
3	chr2:85905600-85909800	Enhancers	Psoas Muscle	Psoas
4	chr2:85905800-85909600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr2:85906200-85909400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:85906400-85914000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:85906800-85909800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:85906800-85911400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:85906800-85914400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:85906800-85918400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:85907400-85909200	Enhancers	Adipose Nuclei	Adipose
12	chr2:85907400-85909200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:85907400-85909400	Enhancers	Left Ventricle	heart
14	chr2:85907400-85909600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:85907400-85909600	Enhancers	Osteobl	bone
16	chr2:85907600-85909000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:85907600-85909200	Enhancers	A549	lung
18	chr2:85907800-85909000	Enhancers	Right Ventricle	heart
19	chr2:85907800-85909000	Flanking Active TSS	Hela-S3	cervix
20	chr2:85907800-85909000	Enhancers	HMEC	breast
21	chr2:85907800-85909000	Enhancers	HUVEC	blood vessel
22	chr2:85908000-85909000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:85908000-85909000	Enhancers	HSMM	muscle
24	chr2:85908000-85909000	Enhancers	NH-A	brain
25	chr2:85908000-85909200	Enhancers	NHDF-Ad	bronchial
26	chr2:85908000-85909600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:85908000-85909600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:85908000-85909800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:85908000-85914800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:85908200-85909200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:85908200-85911600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:85908400-85909000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr2:85908400-85909800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:85908400-85909800	Enhancers	Right Atrium	heart
35	chr2:85908600-85909000	Enhancers	NHLF	lung
36	chr2:85908600-85914200	Weak transcription	Brain Angular Gyrus	brain
37	chr2:85908800-85909000	Enhancers	Spleen	Spleen
38	chr2:85908800-85909200	Enhancers	HSMMtube	muscle
39	chr2:85908800-85909800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:85908800-85912000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:85908800-85914000	Weak transcription	Brain Substantia Nigra	brain
42	chr2:85908800-85914200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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