Variant report

Variant	rs6843496
Chromosome Location	chr4:95389193-95389194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95373775..95376611-chr4:95388871..95391803,3	K562	blood:
2	chr4:95389173..95390941-chr4:95459071..95461024,2	K562	blood:
3	chr4:95386864..95390124-chr4:95470356..95473538,3	K562	blood:
4	chr4:95388967..95390908-chr4:95394700..95396781,2	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10003483	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026467	1.00[CEU][hapmap]
rs10516952	1.00[CEU][hapmap]
rs11735827	1.00[CEU][hapmap]
rs17021775	1.00[CEU][hapmap]
rs17021818	0.85[TSI][hapmap]
rs28445841	0.84[EUR][1000 genomes]
rs3792662	1.00[CEU][hapmap]
rs3792665	1.00[CEU][hapmap]
rs3805265	0.85[TSI][hapmap]
rs3805282	1.00[CEU][hapmap]
rs3805309	0.90[AFR][1000 genomes]
rs60191671	0.82[EUR][1000 genomes]
rs62319387	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62319388	0.84[EUR][1000 genomes]
rs62319389	0.84[EUR][1000 genomes]
rs62321990	0.82[ASN][1000 genomes]
rs62321991	0.94[ASN][1000 genomes]
rs62321992	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62321993	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62321994	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62321996	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996560	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95374200-95389200	Weak transcription	Lung	lung
2	chr4:95374200-95395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:95374200-95400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:95374800-95398200	Weak transcription	Esophagus	oesophagus
5	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
6	chr4:95375800-95401600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:95376600-95392000	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:95378800-95391200	Weak transcription	Placenta	Placenta
9	chr4:95379200-95389600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:95379200-95391000	Enhancers	Liver	Liver
11	chr4:95379200-95398400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr4:95380200-95393400	Weak transcription	HSMMtube	muscle
13	chr4:95380600-95394600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:95381200-95389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:95381200-95391400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:95381200-95393400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:95381600-95393000	Weak transcription	NH-A	brain
18	chr4:95381800-95390000	Weak transcription	K562	blood
19	chr4:95382600-95389400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:95382600-95390200	Weak transcription	Brain Anterior Caudate	brain
21	chr4:95383000-95395800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:95383000-95396000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:95383000-95396000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:95384200-95389600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:95384200-95393600	Weak transcription	Hela-S3	cervix
26	chr4:95384800-95389800	Weak transcription	Adipose Nuclei	Adipose
27	chr4:95385000-95389200	Weak transcription	HMEC	breast
28	chr4:95385200-95390400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:95385600-95389400	Weak transcription	Ovary	ovary
30	chr4:95385800-95389400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:95386000-95390000	Weak transcription	HUVEC	blood vessel
32	chr4:95386000-95391400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:95386200-95389200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:95386600-95390800	Enhancers	Fetal Heart	heart
35	chr4:95386600-95390800	Enhancers	HepG2	liver
36	chr4:95386800-95389800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:95387400-95389200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:95387400-95389200	Weak transcription	Aorta	Aorta
39	chr4:95387400-95389200	Weak transcription	Right Ventricle	heart
40	chr4:95387400-95389600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:95387400-95390400	Weak transcription	Right Atrium	heart
42	chr4:95387400-95390600	Weak transcription	Left Ventricle	heart
43	chr4:95387400-95392000	Weak transcription	Fetal Intestine Small	intestine
44	chr4:95387400-95393200	Weak transcription	Small Intestine	intestine
45	chr4:95387400-95410000	Weak transcription	NHLF	lung
46	chr4:95387400-95420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:95387600-95389400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:95387600-95391600	Weak transcription	A549	lung
49	chr4:95388000-95392800	Weak transcription	NHDF-Ad	bronchial
50	chr4:95388200-95389400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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