Variant report

Variant	rs327070
Chromosome Location	chr4:187624194-187624195
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10002129	0.91[CHB][hapmap];0.86[CHD][hapmap]
rs11724817	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs11939575	0.86[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13123522	0.82[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1877731	0.86[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227585	0.86[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs327068	0.99[ASN][1000 genomes]
rs327103	0.91[ASN][1000 genomes]
rs327110	0.91[CHB][hapmap];0.84[CHD][hapmap]
rs367863	0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs466535	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4862723	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs6850371	0.86[CHB][hapmap]
rs950113	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs997696	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187604600-187626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:187608000-187632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:187614800-187629400	Weak transcription	Esophagus	oesophagus
4	chr4:187615400-187628000	Weak transcription	K562	blood
5	chr4:187618400-187625000	Genic enhancers	Fetal Intestine Small	intestine
6	chr4:187620000-187628800	Weak transcription	Small Intestine	intestine
7	chr4:187620400-187624200	Enhancers	Fetal Muscle Leg	muscle
8	chr4:187620400-187625400	Genic enhancers	HMEC	breast
9	chr4:187620600-187624200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:187620600-187624400	Enhancers	Fetal Kidney	kidney
11	chr4:187620600-187624600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:187620600-187624600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:187620600-187624600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:187620600-187625800	Enhancers	Fetal Lung	lung
15	chr4:187620800-187624200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:187620800-187625400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:187621000-187626400	Enhancers	Stomach Mucosa	stomach
18	chr4:187621200-187624200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:187621200-187624200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr4:187621200-187624400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:187621200-187624800	Enhancers	NHDF-Ad	bronchial
22	chr4:187621200-187625000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:187621200-187625000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:187621200-187625400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:187621200-187628200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:187621400-187625000	Genic enhancers	Duodenum Mucosa	Duodenum
27	chr4:187621400-187627000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:187621800-187624200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:187621800-187624800	Weak transcription	Aorta	Aorta
30	chr4:187622000-187624400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:187622200-187624800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr4:187622200-187625800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr4:187622600-187634200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:187622800-187624200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:187622800-187624400	Enhancers	Brain Germinal Matrix	brain
36	chr4:187622800-187624800	Enhancers	Rectal Smooth Muscle	rectum
37	chr4:187622800-187630400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:187623000-187624200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:187623000-187624800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr4:187623000-187625400	Enhancers	Adipose Nuclei	Adipose
41	chr4:187623000-187628000	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:187623200-187624200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:187623200-187624200	Weak transcription	Brain Substantia Nigra	brain
44	chr4:187623200-187624200	Enhancers	Fetal Intestine Large	intestine
45	chr4:187623200-187625200	Strong transcription	NHEK	skin
46	chr4:187623200-187625400	Genic enhancers	A549	lung
47	chr4:187623200-187626000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr4:187623200-187627600	Enhancers	Colon Smooth Muscle	Colon
49	chr4:187623200-187631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr4:187623200-187632000	Weak transcription	Brain Inferior Temporal Lobe	brain

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