Variant report

Variant	rs7530232
Chromosome Location	chr1:180903558-180903559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180898990..180902817-chr1:180903024..180908375,8	MCF-7	breast:
2	chr1:180901050..180903975-chr1:180910710..180912524,2	K562	blood:
3	chr1:180902411..180904358-chr1:180905767..180907490,2	K562	blood:
4	chr1:180471074..180472830-chr1:180903461..180905741,2	MCF-7	breast:
5	chr1:180902276..180903975-chr1:180910710..180913163,2	K562	blood:
6	chr1:180901585..180904153-chr1:181057174..181059444,2	K562	blood:

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction
ENSG00000162783	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10914137	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10914139	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3845418	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3845419	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60757611	0.97[EUR][1000 genomes];0.96[ASN][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	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv872579	chr1:180881148-180931508	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1001918	chr1:180886750-180908005	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180886000-180911000	Enhancers	Fetal Thymus	thymus
2	chr1:180887600-180915800	Weak transcription	Osteobl	bone
3	chr1:180888600-180917200	Weak transcription	Gastric	stomach
4	chr1:180895400-180914200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:180896200-180903600	Weak transcription	Primary B cells from cord blood	blood
6	chr1:180896200-180903600	Weak transcription	GM12878-XiMat	blood
7	chr1:180896200-180908600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:180896400-180905800	Weak transcription	NHDF-Ad	bronchial
9	chr1:180896400-180915400	Weak transcription	HSMMtube	muscle
10	chr1:180896400-180917400	Weak transcription	Fetal Kidney	kidney
11	chr1:180896600-180904000	Weak transcription	NHLF	lung
12	chr1:180896600-180904400	Weak transcription	Colonic Mucosa	Colon
13	chr1:180896600-180913400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:180896800-180904400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:180896800-180921800	Weak transcription	Pancreas	Pancrea
16	chr1:180897000-180904200	Weak transcription	Fetal Intestine Large	intestine
17	chr1:180897400-180915400	Weak transcription	HSMM	muscle
18	chr1:180898000-180904400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:180898000-180904400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:180898200-180904400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:180898200-180905000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:180898400-180904600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:180898400-180910600	Weak transcription	Brain Substantia Nigra	brain
24	chr1:180899000-180903600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:180899000-180903800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:180899000-180904000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:180899000-180905400	Weak transcription	Left Ventricle	heart
28	chr1:180899000-180907600	Weak transcription	Right Atrium	heart
29	chr1:180899000-180916600	Strong transcription	Fetal Stomach	stomach
30	chr1:180899000-180920200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr1:180899000-180922600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:180899200-180903800	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:180899200-180904400	Weak transcription	Esophagus	oesophagus
34	chr1:180899200-180904800	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:180899200-180904800	Weak transcription	Ovary	ovary
36	chr1:180899200-180905000	Weak transcription	Brain Anterior Caudate	brain
37	chr1:180899200-180905000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:180899200-180905400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:180899800-180904800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:180900000-180922800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:180900200-180904200	Weak transcription	Lung	lung
42	chr1:180900200-180904400	Weak transcription	Aorta	Aorta
43	chr1:180900400-180904000	Weak transcription	Brain Angular Gyrus	brain
44	chr1:180900400-180904200	Weak transcription	Brain Germinal Matrix	brain
45	chr1:180900600-180904600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:180900600-180904800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:180900600-180920000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:180901000-180904000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:180901200-180903600	Weak transcription	Dnd41	blood
50	chr1:180901200-180904000	Weak transcription	Fetal Brain Male	brain

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