Variant report

Variant	rs7694557
Chromosome Location	chr4:147122398-147122399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10519775	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021144	1.00[AMR][1000 genomes]
rs17021196	1.00[AMR][1000 genomes]
rs17021212	0.89[AFR][1000 genomes]
rs17021230	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41463144	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6816161	0.88[YRI][hapmap]
rs6839123	0.87[YRI][hapmap]
rs6847511	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6857745	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7662843	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7664522	1.00[AMR][1000 genomes]
rs7667848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7683036	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461674	chr4:147047072-147143572	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv595650	chr4:147047072-147143572	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1018859	chr4:147055618-147138397	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147109000-147123000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr4:147109800-147126000	Weak transcription	Aorta	Aorta
3	chr4:147112000-147127200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:147112200-147124800	Weak transcription	Spleen	Spleen
5	chr4:147112200-147125200	Weak transcription	Pancreas	Pancrea
6	chr4:147112800-147127600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:147113200-147123000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:147113200-147124200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:147113400-147124400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:147113800-147124400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:147113800-147126400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:147113800-147127400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr4:147114000-147123600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:147114000-147125200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:147114000-147126000	Weak transcription	Liver	Liver
16	chr4:147114000-147126000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:147114000-147127600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:147114000-147129200	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:147114000-147132600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:147114000-147144800	Weak transcription	Gastric	stomach
21	chr4:147114200-147126000	Weak transcription	Adipose Nuclei	Adipose
22	chr4:147114400-147124000	Weak transcription	GM12878-XiMat	blood
23	chr4:147114600-147125400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:147117000-147124600	Weak transcription	Esophagus	oesophagus
25	chr4:147117400-147126000	Weak transcription	Primary T cells from cord blood	blood
26	chr4:147117800-147123000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:147120800-147123800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:147121400-147123000	Strong transcription	Primary B cells from cord blood	blood

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