Variant report

Variant	rs6835123
Chromosome Location	chr4:47539240-47539241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47536442..47538388-chr4:47538970..47540735,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11938614	1.00[AMR][1000 genomes]
rs4305497	1.00[YRI][hapmap]
rs6822381	0.84[AFR][1000 genomes]
rs6823407	1.00[YRI][hapmap]
rs7682739	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1008515	chr4:47488431-47906835	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv948568	chr4:47488431-47907524	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1004939	chr4:47488573-47901460	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv537080	chr4:47488573-47901460	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv997471	chr4:47489412-47895223	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv998892	chr4:47493552-47863354	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv537081	chr4:47493552-47863354	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1000337	chr4:47493907-47902019	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv879006	chr4:47525054-47555196	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47488800-47559800	Weak transcription	Right Ventricle	heart
2	chr4:47512400-47577200	Weak transcription	Small Intestine	intestine
3	chr4:47514000-47551000	Weak transcription	Gastric	stomach
4	chr4:47516400-47547800	Weak transcription	Ovary	ovary
5	chr4:47516400-47548200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:47518000-47544800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:47525200-47540600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:47525200-47544000	Weak transcription	Fetal Intestine Small	intestine
9	chr4:47526400-47559800	Weak transcription	Pancreas	Pancrea
10	chr4:47532200-47550400	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:47533400-47548400	Weak transcription	Psoas Muscle	Psoas
12	chr4:47533800-47548000	Weak transcription	Fetal Heart	heart
13	chr4:47534000-47559800	Weak transcription	Lung	lung
14	chr4:47534200-47548800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:47534400-47540600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:47534400-47548400	Weak transcription	Esophagus	oesophagus
17	chr4:47534400-47548600	Weak transcription	Brain Angular Gyrus	brain
18	chr4:47534400-47548600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:47534400-47552600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:47534400-47560000	Weak transcription	Brain Substantia Nigra	brain
21	chr4:47534400-47560400	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:47534600-47540600	Weak transcription	Aorta	Aorta
23	chr4:47534600-47543600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:47534600-47544000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:47534600-47544200	Weak transcription	Fetal Stomach	stomach
26	chr4:47534600-47548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:47534600-47548600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:47534600-47559600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:47534600-47580800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:47534600-47592000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr4:47535200-47543800	Strong transcription	Placenta	Placenta
32	chr4:47535400-47557800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:47535800-47543200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:47536000-47539400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:47536000-47539600	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:47536000-47539800	Strong transcription	HSMMtube	muscle
37	chr4:47536000-47540800	Strong transcription	Liver	Liver
38	chr4:47536000-47545800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr4:47536200-47539400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr4:47536200-47539600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:47536200-47540600	Strong transcription	Osteobl	bone
42	chr4:47536200-47543600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:47536200-47544200	Strong transcription	HSMM	muscle
44	chr4:47536200-47571000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:47536600-47539600	Strong transcription	Primary B cells from cord blood	blood
46	chr4:47536600-47539600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr4:47536600-47540000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr4:47536600-47540600	Strong transcription	NH-A	brain
49	chr4:47536600-47542400	Weak transcription	HUVEC	blood vessel
50	chr4:47536600-47548000	Weak transcription	Primary T cells from cord blood	blood

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