Variant report

Variant	rs327095
Chromosome Location	chr4:187638636-187638637
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187637189..187639429-chr4:187808650..187810594,2	K562	blood:
2	chr4:187619254..187623290-chr4:187636723..187640845,3	MCF-7	breast:
3	chr4:187638279..187640138-chr4:187642183..187644541,2	K562	blood:
4	chr4:187634755..187638971-chr4:187642720..187646926,4	K562	blood:
5	chr4:187628920..187631619-chr4:187637176..187639413,2	K562	blood:

Variant related genes	Relation type
ENSG00000083857	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs189008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs327067	0.90[GIH][hapmap]
rs327093	0.94[ASN][1000 genomes]
rs327096	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327100	0.98[ASN][1000 genomes]
rs327101	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327102	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3733415	0.88[GIH][hapmap]
rs455219	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6818461	0.88[GIH][hapmap]
rs73015641	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs907988	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs327095	HELT	cis	parietal	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

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	chr4:187630600-187638800	Weak transcription	Gastric	stomach
4	chr4:187630600-187638800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:187630600-187641600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:187631000-187639000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:187631000-187639200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:187631000-187640000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:187631000-187641200	Weak transcription	Fetal Kidney	kidney
10	chr4:187631000-187643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:187632400-187638800	Weak transcription	A549	lung
12	chr4:187633800-187640000	Weak transcription	NHDF-Ad	bronchial
13	chr4:187634800-187640000	Weak transcription	HSMM	muscle
14	chr4:187634800-187644200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:187635000-187639600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:187635400-187644200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:187635600-187640800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:187635600-187643200	Weak transcription	Right Ventricle	heart
19	chr4:187635800-187639800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:187635800-187643800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:187636200-187639600	Enhancers	HepG2	liver
22	chr4:187636200-187640200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:187636600-187639000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:187636800-187639200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:187637000-187638800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:187637000-187641600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:187637200-187640000	Weak transcription	Fetal Lung	lung
28	chr4:187637400-187640800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:187637400-187641200	Weak transcription	Osteobl	bone
30	chr4:187637400-187641600	Weak transcription	NH-A	brain
31	chr4:187637400-187643000	Weak transcription	Aorta	Aorta
32	chr4:187637600-187639000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:187637600-187639000	Enhancers	Left Ventricle	heart
34	chr4:187637600-187640000	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr4:187637600-187643400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:187637800-187639400	Enhancers	Fetal Heart	heart
37	chr4:187637800-187641400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:187638200-187638800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:187638200-187640000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:187638200-187641800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:187638200-187644200	Weak transcription	Pancreas	Pancrea
42	chr4:187638400-187639000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:187638400-187639200	Enhancers	Colon Smooth Muscle	Colon
44	chr4:187638400-187639200	Enhancers	Rectal Smooth Muscle	rectum
45	chr4:187638400-187639400	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr4:187638400-187639400	Flanking Active TSS	NHEK	skin
47	chr4:187638600-187638800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:187638600-187639000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:187638600-187639200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:187638600-187639200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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