Variant report

Variant	rs182399714
Chromosome Location	chr4:187642677-187642678
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187641332..187643259-chr4:187644870..187646656,2	K562	blood:
2	chr4:187641131..187642832-chr4:187644855..187646370,2	K562	blood:
3	chr4:187632290..187634581-chr4:187642578..187644901,2	K562	blood:
4	chr4:187638279..187640138-chr4:187642183..187644541,2	K562	blood:

Variant related genes	Relation type
ENSG00000083857	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv822892	chr4:187640281-187653074	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv822893	chr4:187642198-187652700	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187626400-187643600	Weak transcription	Stomach Mucosa	stomach
2	chr4:187630400-187643600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:187631000-187643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:187634800-187644200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:187635400-187644200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:187635600-187643200	Weak transcription	Right Ventricle	heart
7	chr4:187635800-187643800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:187637400-187643000	Weak transcription	Aorta	Aorta
9	chr4:187637600-187643400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:187638200-187644200	Weak transcription	Pancreas	Pancrea
11	chr4:187639400-187643400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:187640400-187643200	Weak transcription	HSMM	muscle
13	chr4:187641600-187643000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:187641800-187643000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:187641800-187643000	Enhancers	HepG2	liver
16	chr4:187641800-187643200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:187641800-187643200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:187641800-187643400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:187641800-187644000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:187642000-187643200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:187642000-187643200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:187642000-187643200	Weak transcription	Fetal Lung	lung
23	chr4:187642000-187643200	Weak transcription	Osteobl	bone
24	chr4:187642000-187643400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:187642000-187643400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:187642000-187643400	Weak transcription	Fetal Kidney	kidney
27	chr4:187642000-187644000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:187642000-187644200	Weak transcription	Lung	lung
29	chr4:187642000-187646800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:187642200-187642800	Weak transcription	NH-A	brain
31	chr4:187642200-187643000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:187642200-187643000	Weak transcription	Right Atrium	heart
33	chr4:187642400-187643000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:187642400-187643200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:187642400-187643200	Flanking Active TSS	HMEC	breast
36	chr4:187642400-187643400	Weak transcription	A549	lung
37	chr4:187642600-187642800	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr4:187642600-187642800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:187642600-187642800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:187642600-187643000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr4:187642600-187643000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr4:187642600-187643200	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr4:187642600-187643200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:187642600-187643200	Enhancers	Fetal Intestine Small	intestine
45	chr4:187642600-187643400	Enhancers	Fetal Heart	heart
46	chr4:187642600-187643600	Enhancers	Colon Smooth Muscle	Colon
47	chr4:187642600-187643800	Transcr. at gene 5' and 3'	NHEK	skin
48	chr4:187642600-187646200	Active TSS	H1 Cell Line	embryonic stem cell
49	chr4:187642600-187649200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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