Variant report

Variant	rs7695210
Chromosome Location	chr4:55433192-55433193
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	chr4:55421421..55423716-chr4:55432177..55433875,2	K562	blood:
2	chr4:55432509..55435392-chr4:55437347..55440504,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13101303	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13135683	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1848345	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28708475	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35743047	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35843662	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35927253	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats 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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55406200-55434200	Weak transcription	Right Atrium	heart
2	chr4:55431200-55434200	Weak transcription	Aorta	Aorta
3	chr4:55431200-55434600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:55432400-55433200	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr4:55432400-55433200	Enhancers	Fetal Intestine Large	intestine
6	chr4:55432400-55433200	Enhancers	Fetal Intestine Small	intestine
7	chr4:55432400-55433400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:55432400-55433400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:55432400-55433400	Enhancers	Psoas Muscle	Psoas
10	chr4:55432400-55433400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr4:55432400-55434400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:55432600-55433200	Enhancers	GM12878-XiMat	blood
13	chr4:55432600-55433400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:55432600-55433400	Enhancers	Fetal Thymus	thymus
15	chr4:55432600-55435600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:55432800-55433200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr4:55432800-55433200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr4:55432800-55433200	Enhancers	Esophagus	oesophagus
19	chr4:55432800-55433600	Enhancers	Stomach Mucosa	stomach
20	chr4:55432800-55434000	Weak transcription	NHLF	lung
21	chr4:55433000-55433200	Enhancers	Lung	lung
22	chr4:55433000-55433200	Enhancers	Pancreas	Pancrea
23	chr4:55433000-55433200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr4:55433000-55433200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:55433000-55433200	Enhancers	Small Intestine	intestine
26	chr4:55433000-55433400	Weak transcription	K562	blood
27	chr4:55433000-55434000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:55433000-55434000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:55433000-55434200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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