Variant report

Variant	rs10516949
Chromosome Location	chr4:95330180-95330181
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95326928..95329880-chr4:95329975..95331651,2	K562	blood:
2	chr4:95326709..95334286-chr4:95370177..95376483,13	K562	blood:

Variant related genes	Relation type
ENSG00000203436	Chromatin interaction
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11934623	1.00[EUR][1000 genomes]
rs11938688	1.00[EUR][1000 genomes]
rs11943494	1.00[EUR][1000 genomes]
rs17021743	1.00[EUR][1000 genomes]
rs17021819	1.00[EUR][1000 genomes]
rs17021820	1.00[EUR][1000 genomes]
rs17021884	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17021906	1.00[EUR][1000 genomes]
rs4392514	1.00[EUR][1000 genomes]
rs56955132	1.00[EUR][1000 genomes]
rs57569167	1.00[EUR][1000 genomes]
rs57981938	1.00[EUR][1000 genomes]
rs60223269	1.00[EUR][1000 genomes]
rs61477568	1.00[EUR][1000 genomes]
rs61628216	1.00[EUR][1000 genomes]
rs6813105	1.00[AMR][1000 genomes]
rs6815474	1.00[AMR][1000 genomes]
rs6825392	1.00[EUR][1000 genomes]
rs6825799	1.00[EUR][1000 genomes]
rs6826138	1.00[EUR][1000 genomes]
rs6835329	1.00[AMR][1000 genomes]
rs6835988	1.00[AMR][1000 genomes]
rs6845278	1.00[AMR][1000 genomes]
rs6849063	1.00[EUR][1000 genomes]
rs6851080	1.00[EUR][1000 genomes]
rs72878415	1.00[EUR][1000 genomes]
rs72878481	1.00[EUR][1000 genomes]
rs72878484	1.00[EUR][1000 genomes]
rs72878489	1.00[EUR][1000 genomes]
rs72878495	1.00[EUR][1000 genomes]
rs72878497	1.00[EUR][1000 genomes]
rs72878499	1.00[EUR][1000 genomes]
rs72880403	1.00[EUR][1000 genomes]
rs72880404	1.00[EUR][1000 genomes]
rs72880405	1.00[EUR][1000 genomes]
rs72880406	1.00[EUR][1000 genomes]
rs72880407	1.00[EUR][1000 genomes]
rs72890410	1.00[EUR][1000 genomes]
rs7684833	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr4:95325200-95331800	Weak transcription	Ovary	ovary
2	chr4:95325400-95331800	Weak transcription	Adipose Nuclei	Adipose
3	chr4:95325400-95333600	Weak transcription	Psoas Muscle	Psoas
4	chr4:95328000-95331000	Enhancers	HSMMtube	muscle
5	chr4:95328000-95331600	Enhancers	Osteobl	bone
6	chr4:95328000-95333400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:95328200-95331000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:95328200-95331000	Enhancers	A549	lung
9	chr4:95328400-95330400	Enhancers	NHLF	lung
10	chr4:95328400-95331000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:95328400-95331000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:95328400-95331800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:95328400-95333000	Weak transcription	Placenta	Placenta
14	chr4:95328400-95333600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:95328600-95333400	Weak transcription	Brain Anterior Caudate	brain
16	chr4:95328600-95333600	Weak transcription	Brain Angular Gyrus	brain
17	chr4:95328600-95335400	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:95329000-95330600	Enhancers	K562	blood
19	chr4:95329000-95331800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:95329200-95330400	Enhancers	Fetal Intestine Small	intestine
21	chr4:95329200-95332000	Weak transcription	HUVEC	blood vessel
22	chr4:95329200-95335800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:95329600-95330200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:95329600-95330200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:95329600-95330200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr4:95329600-95330400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:95329600-95330400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:95329600-95330600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:95329600-95331800	Enhancers	HepG2	liver
30	chr4:95329600-95332200	Enhancers	HSMM	muscle
31	chr4:95329800-95330200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:95329800-95330400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr4:95329800-95330400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:95329800-95330400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:95329800-95330400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:95329800-95330600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:95329800-95330600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:95329800-95331000	Enhancers	Fetal Kidney	kidney
39	chr4:95329800-95331200	Enhancers	NH-A	brain
40	chr4:95330000-95330200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:95330000-95330800	Enhancers	Fetal Heart	heart
42	chr4:95330000-95331200	Weak transcription	Liver	Liver
43	chr4:95330000-95331600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr4:95330000-95331600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr4:95330000-95331800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:95330000-95332000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:95330000-95332000	Enhancers	Colon Smooth Muscle	Colon
48	chr4:95330000-95333200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr4:95330000-95333800	Weak transcription	Aorta	Aorta

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