Variant report

Variant	rs2385896
Chromosome Location	chr4:8018419-8018420
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8018368..8020892-chr4:8193998..8196693,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11932811	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34540414	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7685070	0.82[CEU][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs9997129	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv829852	chr4:7991906-8151267	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878580	chr4:8012167-8045469	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv470009	chr4:8015421-8085174	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8007800-8022000	Weak transcription	Esophagus	oesophagus
2	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
3	chr4:8012400-8039000	Weak transcription	Gastric	stomach
4	chr4:8012800-8035000	Weak transcription	Pancreas	Pancrea
5	chr4:8013000-8020600	Weak transcription	Brain Angular Gyrus	brain
6	chr4:8013000-8021400	Weak transcription	Fetal Intestine Small	intestine
7	chr4:8013000-8036600	Weak transcription	Right Ventricle	heart
8	chr4:8013200-8020400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:8013200-8020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:8014800-8031400	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:8016400-8027400	Weak transcription	Aorta	Aorta
12	chr4:8016600-8021600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:8017400-8020200	Weak transcription	Brain Substantia Nigra	brain
14	chr4:8017400-8020400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:8017400-8020800	Weak transcription	Brain Anterior Caudate	brain
16	chr4:8017400-8040400	Weak transcription	Right Atrium	heart
17	chr4:8018000-8018600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
18	chr4:8018000-8018800	Strong transcription	Psoas Muscle	Psoas
19	chr4:8018200-8018600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:8018200-8019000	Strong transcription	Spleen	Spleen
21	chr4:8018400-8018600	Enhancers	Fetal Heart	heart
22	chr4:8018400-8019400	Weak transcription	Fetal Intestine Large	intestine

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