Variant report

Variant	rs17013246
Chromosome Location	chr4:129310174-129310175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129206931..129210316-chr4:129305166..129310955,10	MCF-7	breast:
2	chr4:129309240..129311697-chr4:129314341..129316608,2	MCF-7	breast:
3	chr4:129306230..129308193-chr4:129309393..129312051,2	K562	blood:
4	chr4:129308589..129310194-chr4:129473413..129476232,2	MCF-7	breast:
5	chr4:129305151..129309192-chr4:129309393..129314281,5	K562	blood:

Variant related genes	Relation type
ENSG00000273077	Chromatin interaction
ENSG00000164040	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11098961	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs17013258	0.99[ASN][1000 genomes]
rs59018637	0.85[ASN][1000 genomes]
rs60220093	0.87[ASN][1000 genomes]
rs61069673	0.89[ASN][1000 genomes]
rs61268946	0.87[ASN][1000 genomes]
rs61697796	0.88[ASN][1000 genomes]
rs7687777	0.89[ASN][1000 genomes]
rs7695750	0.87[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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129301800-129314000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:129304200-129310200	Enhancers	Placenta	Placenta
3	chr4:129304400-129310600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:129305200-129314400	Weak transcription	Small Intestine	intestine
5	chr4:129305400-129310200	Enhancers	Ovary	ovary
6	chr4:129306000-129310200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:129306400-129310200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:129306400-129310600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:129306600-129310200	Enhancers	NHEK	skin
10	chr4:129306600-129311400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:129307200-129312000	Enhancers	Fetal Heart	heart
12	chr4:129307600-129311000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:129307800-129312000	Enhancers	Fetal Brain Male	brain
14	chr4:129308000-129310400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:129308200-129310200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr4:129308200-129313000	Enhancers	A549	lung
17	chr4:129308200-129317000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:129308400-129310200	Enhancers	Brain Hippocampus Middle	brain
19	chr4:129308400-129310400	Enhancers	Brain Substantia Nigra	brain
20	chr4:129308400-129311000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:129308400-129311400	Enhancers	Psoas Muscle	Psoas
22	chr4:129308400-129313800	Weak transcription	Fetal Intestine Small	intestine
23	chr4:129308600-129311000	Weak transcription	Fetal Lung	lung
24	chr4:129308800-129310800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:129308800-129311000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:129308800-129311400	Enhancers	Rectal Smooth Muscle	rectum
27	chr4:129309000-129311000	Weak transcription	Brain Anterior Caudate	brain
28	chr4:129309000-129311200	Weak transcription	Pancreas	Pancrea
29	chr4:129309000-129311800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:129309000-129312000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:129309000-129314000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:129309000-129314400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:129309000-129314600	Weak transcription	Gastric	stomach
34	chr4:129309200-129311200	Weak transcription	Fetal Stomach	stomach
35	chr4:129309200-129311400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:129309200-129314000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:129309400-129314000	Weak transcription	K562	blood
38	chr4:129309600-129310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:129309600-129310800	Weak transcription	Right Atrium	heart
40	chr4:129309600-129311000	Weak transcription	NHLF	lung
41	chr4:129309600-129311200	Weak transcription	Adipose Nuclei	Adipose
42	chr4:129309600-129311200	Weak transcription	Right Ventricle	heart
43	chr4:129309600-129311400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:129309600-129312200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr4:129309600-129312400	Weak transcription	Brain Angular Gyrus	brain
46	chr4:129309600-129314000	Weak transcription	HSMM	muscle
47	chr4:129309600-129314400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:129309600-129314600	Weak transcription	Left Ventricle	heart
49	chr4:129309800-129310800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:129309800-129311000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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