Variant report

Variant	rs72965979
Chromosome Location	chr4:160141934-160141935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:160137920..160140020-chr4:160140092..160142382,2	K562	blood:
2	chr4:160139791..160142623-chr4:160144454..160146508,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10034409	1.00[EUR][1000 genomes]
rs28755457	1.00[EUR][1000 genomes]
rs28883584	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57147050	1.00[EUR][1000 genomes]
rs57299850	1.00[EUR][1000 genomes]
rs57659423	1.00[EUR][1000 genomes]
rs57696778	1.00[EUR][1000 genomes]
rs60646338	1.00[EUR][1000 genomes]
rs61498926	1.00[EUR][1000 genomes]
rs72967707	1.00[EUR][1000 genomes]
rs72967709	1.00[EUR][1000 genomes]
rs72967714	1.00[EUR][1000 genomes]
rs72967717	1.00[EUR][1000 genomes]
rs72967780	1.00[EUR][1000 genomes]
rs72967798	1.00[EUR][1000 genomes]
rs7679267	1.00[EUR][1000 genomes]
rs7691182	1.00[EUR][1000 genomes]
rs9685433	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016150	chr4:159995816-160165156	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830129	chr4:160061694-160270760	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160097400-160143200	Weak transcription	Fetal Intestine Large	intestine
2	chr4:160101400-160143400	Weak transcription	Fetal Kidney	kidney
3	chr4:160102000-160149000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:160107000-160145600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:160113200-160142400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:160115600-160149200	Weak transcription	Esophagus	oesophagus
7	chr4:160116600-160145200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:160116800-160148200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:160119000-160148600	Weak transcription	Small Intestine	intestine
10	chr4:160125200-160148600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:160126600-160142800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:160127800-160148600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:160128000-160148600	Weak transcription	NHDF-Ad	bronchial
14	chr4:160128400-160148600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:160128600-160148400	Weak transcription	Stomach Mucosa	stomach
16	chr4:160129200-160148200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:160130200-160142400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:160130800-160148600	Weak transcription	Ovary	ovary
19	chr4:160132200-160142200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:160132400-160148600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:160132400-160148600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:160132400-160149200	Weak transcription	Brain Germinal Matrix	brain
23	chr4:160132800-160148000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:160133400-160143200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:160133400-160171600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:160134200-160156600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:160135600-160142800	Weak transcription	Brain Substantia Nigra	brain
28	chr4:160136600-160143200	Weak transcription	Fetal Intestine Small	intestine
29	chr4:160138000-160142200	Weak transcription	Brain Angular Gyrus	brain
30	chr4:160138000-160145400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:160138000-160156000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:160138200-160142600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:160138200-160142800	Weak transcription	Brain Anterior Caudate	brain
34	chr4:160138600-160142600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:160138800-160142400	Weak transcription	Gastric	stomach
36	chr4:160138800-160148600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:160139000-160142800	Weak transcription	Fetal Brain Female	brain
38	chr4:160139600-160142800	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:160140800-160144000	Enhancers	Fetal Heart	heart
40	chr4:160141000-160143800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr4:160141200-160142000	Enhancers	Right Ventricle	heart
42	chr4:160141200-160142600	Enhancers	Psoas Muscle	Psoas
43	chr4:160141200-160145600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:160141400-160142600	Enhancers	Left Ventricle	heart
45	chr4:160141400-160144800	Weak transcription	Liver	Liver
46	chr4:160141400-160145200	Weak transcription	HepG2	liver
47	chr4:160141400-160145400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:160141400-160148600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr4:160141400-160148800	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:160141600-160142000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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