Variant report

Variant	rs527805169
Chromosome Location	chr4:187643998-187643999
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	chr4:187632290..187634581-chr4:187642578..187644901,2	K562	blood:
2	chr4:187638279..187640138-chr4:187642183..187644541,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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
13	nsv822894	chr4:187643349-187648419	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	esv3356398	chr4:187643483-187646331	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187634800-187644200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:187635400-187644200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:187638200-187644200	Weak transcription	Pancreas	Pancrea
4	chr4:187641800-187644000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:187642000-187644000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:187642000-187644200	Weak transcription	Lung	lung
7	chr4:187642000-187646800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:187642600-187646200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr4:187642600-187649200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:187642800-187644400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:187642800-187649000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr4:187643000-187646200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr4:187643000-187646400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr4:187643000-187648600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr4:187643000-187648600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:187643200-187644000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:187643200-187644000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:187643200-187644000	Flanking Active TSS	NH-A	brain
19	chr4:187643200-187648600	Active TSS	Right Ventricle	heart
20	chr4:187643200-187648600	Active TSS	HSMM	muscle
21	chr4:187643200-187648600	Active TSS	NHLF	lung
22	chr4:187643200-187648800	Active TSS	Osteobl	bone
23	chr4:187643200-187649000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:187643200-187649000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr4:187643200-187649000	Active TSS	HMEC	breast
26	chr4:187643200-187649200	Active TSS	Fetal Intestine Small	intestine
27	chr4:187643200-187649800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:187643400-187644000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr4:187643400-187644000	Weak transcription	Aorta	Aorta
30	chr4:187643400-187644200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:187643400-187644200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:187643400-187644200	Active TSS	Fetal Muscle Leg	muscle
33	chr4:187643400-187644200	Weak transcription	Left Ventricle	heart
34	chr4:187643400-187645400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:187643400-187646000	Active TSS	K562	blood
36	chr4:187643400-187646200	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr4:187643400-187648600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr4:187643400-187649000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:187643400-187649000	Active TSS	NHDF-Ad	bronchial
40	chr4:187643400-187650000	Active TSS	Duodenum Mucosa	Duodenum
41	chr4:187643600-187644000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:187643600-187644000	Enhancers	Brain Hippocampus Middle	brain
43	chr4:187643600-187644000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr4:187643600-187644000	Flanking Active TSS	Fetal Kidney	kidney
45	chr4:187643600-187644000	Flanking Active TSS	Fetal Lung	lung
46	chr4:187643600-187644000	Enhancers	Hela-S3	cervix
47	chr4:187643600-187644200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr4:187643600-187644200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr4:187643600-187644400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:187643600-187644400	Bivalent/Poised TSS	Fetal Brain Male	brain

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