Variant report

Variant	rs34949750
Chromosome Location	chr4:86684173-86684174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10012090	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10516755	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724267	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11736641	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11937419	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13102580	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13105921	0.96[EUR][1000 genomes]
rs13111293	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13111662	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13112030	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13113783	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127274	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13137008	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150566	1.00[ASN][1000 genomes]
rs1482093	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1482094	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17010755	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010812	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17010816	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17010847	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2062097	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2062098	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2198328	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2601855	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601860	0.95[ASN][1000 genomes]
rs2601861	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2624021	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28490560	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2869377	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2869379	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2869380	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2869384	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs343849	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs343856	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs343860	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34422670	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41527748	0.95[ASN][1000 genomes]
rs4302455	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4507354	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6813799	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7658797	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7660252	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7660702	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7677114	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7692808	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs994285	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879517	chr4:86677107-86739805	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86674800-86685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:86676800-86697800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:86678200-86685200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:86679000-86684600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr4:86680400-86685600	Enhancers	Osteobl	bone
7	chr4:86681000-86684800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:86681600-86684800	Enhancers	Fetal Stomach	stomach
9	chr4:86681800-86684600	Enhancers	Adipose Nuclei	Adipose
10	chr4:86681800-86684800	Enhancers	Fetal Muscle Leg	muscle
11	chr4:86682000-86684400	Weak transcription	Small Intestine	intestine
12	chr4:86682000-86685200	Enhancers	NHDF-Ad	bronchial
13	chr4:86682000-86697000	Weak transcription	Psoas Muscle	Psoas
14	chr4:86682800-86684400	Enhancers	Fetal Kidney	kidney
15	chr4:86682800-86684600	Enhancers	Brain Substantia Nigra	brain
16	chr4:86682800-86684600	Flanking Active TSS	HUVEC	blood vessel
17	chr4:86682800-86684800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:86682800-86684800	Enhancers	Right Atrium	heart
19	chr4:86683000-86684400	Weak transcription	Ovary	ovary
20	chr4:86683000-86684600	Weak transcription	Pancreas	Pancrea
21	chr4:86683000-86685000	Enhancers	Fetal Lung	lung
22	chr4:86683200-86684400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:86683200-86684800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr4:86683200-86699000	Weak transcription	Primary B cells from cord blood	blood
25	chr4:86683400-86684200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:86683400-86684400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:86683400-86684400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:86683400-86684400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:86683400-86684600	Enhancers	Brain Hippocampus Middle	brain
30	chr4:86683400-86684800	Enhancers	HSMM	muscle
31	chr4:86683600-86684200	Enhancers	HSMMtube	muscle
32	chr4:86683600-86684600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:86683600-86684600	Enhancers	A549	lung
34	chr4:86683800-86684200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:86683800-86684200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:86683800-86684200	Enhancers	Brain Anterior Caudate	brain
37	chr4:86683800-86686600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:86683800-86695200	Weak transcription	HMEC	breast
39	chr4:86684000-86684200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:86684000-86684600	Enhancers	NH-A	brain
41	chr4:86684000-86685600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:86684000-86685600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:86684000-86685600	Enhancers	NHLF	lung
44	chr4:86684000-86688600	Weak transcription	Stomach Smooth Muscle	stomach

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