Variant report

Variant	rs60157848
Chromosome Location	chr4:147415971-147415972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147406269..147408332-chr4:147414612..147417011,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73852866	1.00[AFR][1000 genomes]
rs73852871	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147389200-147416200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:147389200-147416400	Weak transcription	NHEK	skin
3	chr4:147399800-147416400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:147403000-147422200	Weak transcription	Placenta	Placenta
5	chr4:147403000-147436200	Weak transcription	Lung	lung
6	chr4:147403800-147424200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:147403800-147440600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:147404200-147441800	Weak transcription	Right Ventricle	heart
9	chr4:147404800-147420400	Weak transcription	Primary B cells from cord blood	blood
10	chr4:147405000-147416200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:147405000-147416200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:147405000-147424400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:147405200-147422600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:147405400-147421400	Weak transcription	Liver	Liver
15	chr4:147405400-147422600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:147405400-147424600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:147405400-147436200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:147405400-147440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:147405600-147417400	Weak transcription	Esophagus	oesophagus
20	chr4:147405600-147417400	Weak transcription	Pancreas	Pancrea
21	chr4:147405600-147421400	Weak transcription	Adipose Nuclei	Adipose
22	chr4:147405600-147440800	Weak transcription	Fetal Intestine Large	intestine
23	chr4:147405800-147422400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr4:147405800-147422400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:147405800-147428800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:147406400-147435200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:147406800-147416200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:147406800-147421800	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:147406800-147424000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:147407000-147422600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:147407000-147441800	Weak transcription	Aorta	Aorta
32	chr4:147407200-147441800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:147408200-147416000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:147408200-147417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr4:147408200-147429600	Weak transcription	Psoas Muscle	Psoas
36	chr4:147408200-147441400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr4:147408200-147442200	Weak transcription	Spleen	Spleen
38	chr4:147408600-147416200	Weak transcription	HMEC	breast
39	chr4:147408600-147422600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr4:147408600-147440800	Weak transcription	Fetal Brain Female	brain
41	chr4:147408800-147419600	Weak transcription	Fetal Lung	lung
42	chr4:147409000-147416200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:147409200-147418200	Weak transcription	Fetal Intestine Small	intestine
44	chr4:147409200-147422000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:147409200-147422400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:147409400-147417000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:147409400-147421400	Weak transcription	Primary T cells from cord blood	blood
48	chr4:147409400-147424600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:147409400-147441200	Weak transcription	Fetal Stomach	stomach
50	chr4:147410400-147436000	Weak transcription	Brain Anterior Caudate	brain

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