Variant report

Variant	rs17013258
Chromosome Location	chr4:129313653-129313654
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	chr4:129307944..129310156-chr4:129310827..129313673,3	MCF-7	breast:
2	chr4:129305151..129309192-chr4:129309393..129314281,5	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11098961	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17013246	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs59018637	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60220093	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60570598	1.00[EUR][1000 genomes]
rs61069673	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61268946	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61697796	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7687777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7695750	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 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	chr4:129301800-129314000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:129305200-129314400	Weak transcription	Small Intestine	intestine
3	chr4:129308200-129317000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:129308400-129313800	Weak transcription	Fetal Intestine Small	intestine
5	chr4:129309000-129314000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:129309000-129314400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:129309000-129314600	Weak transcription	Gastric	stomach
8	chr4:129309200-129314000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:129309400-129314000	Weak transcription	K562	blood
10	chr4:129309600-129314000	Weak transcription	HSMM	muscle
11	chr4:129309600-129314400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:129309600-129314600	Weak transcription	Left Ventricle	heart
13	chr4:129309800-129314000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:129309800-129314000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:129309800-129314000	Weak transcription	Osteobl	bone
16	chr4:129309800-129314400	Weak transcription	HSMMtube	muscle
17	chr4:129310000-129313800	Weak transcription	NHDF-Ad	bronchial
18	chr4:129310000-129314000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:129310000-129314000	Weak transcription	Hela-S3	cervix
20	chr4:129310200-129314000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:129310200-129314000	Weak transcription	NHEK	skin
22	chr4:129310200-129316000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:129310800-129314400	Weak transcription	Fetal Brain Female	brain
24	chr4:129311000-129315200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:129311200-129313800	Weak transcription	HMEC	breast
26	chr4:129311200-129314200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:129311200-129314600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:129311400-129314000	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:129311400-129314400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:129311400-129314400	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:129311400-129314400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:129311400-129314600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:129311400-129314600	Weak transcription	Psoas Muscle	Psoas
34	chr4:129311400-129316000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:129311600-129314000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:129311600-129314600	Weak transcription	Fetal Stomach	stomach
37	chr4:129312000-129314400	Weak transcription	Adipose Nuclei	Adipose
38	chr4:129312000-129314600	Weak transcription	Pancreas	Pancrea
39	chr4:129312000-129315400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr4:129312200-129314000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:129312800-129314000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:129312800-129314200	Weak transcription	Brain Substantia Nigra	brain
43	chr4:129312800-129314400	Weak transcription	Ovary	ovary
44	chr4:129313000-129313800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:129313000-129314000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:129313000-129314000	Weak transcription	Stomach Mucosa	stomach
47	chr4:129313000-129314000	Weak transcription	A549	lung
48	chr4:129313000-129314400	Weak transcription	NHLF	lung
49	chr4:129313200-129314000	Enhancers	Fetal Heart	heart

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