Variant report

Variant	rs71583738
Chromosome Location	chr7:129489889-129489890
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129483362..129485207-chr7:129489886..129491437,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11760945	1.00[AFR][1000 genomes]
rs13242512	1.00[AFR][1000 genomes]
rs17559596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71583745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129472800-129491400	Weak transcription	Fetal Kidney	kidney
2	chr7:129475000-129534800	Weak transcription	Colonic Mucosa	Colon
3	chr7:129477800-129495400	Weak transcription	HepG2	liver
4	chr7:129477800-129498400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:129479200-129490800	Weak transcription	Liver	Liver
6	chr7:129479200-129490800	Weak transcription	Fetal Intestine Large	intestine
7	chr7:129479200-129495600	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:129479400-129493000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:129479400-129493200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
11	chr7:129479600-129492600	Weak transcription	Placenta	Placenta
12	chr7:129481200-129490800	Weak transcription	Brain Anterior Caudate	brain
13	chr7:129481200-129491400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:129481200-129493000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:129481200-129493000	Weak transcription	Fetal Lung	lung
16	chr7:129481400-129499800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:129481400-129510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:129484000-129497000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:129484200-129495400	Weak transcription	Fetal Stomach	stomach
20	chr7:129484200-129498600	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:129484200-129503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:129485200-129491000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:129485400-129491000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:129485400-129498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:129485400-129503800	Weak transcription	Lung	lung
26	chr7:129485600-129491000	Weak transcription	Brain Substantia Nigra	brain
27	chr7:129485600-129491600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:129485600-129493200	Weak transcription	Right Atrium	heart
29	chr7:129485600-129493600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:129485600-129493600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:129485600-129493600	Weak transcription	Gastric	stomach
32	chr7:129485600-129495400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:129485600-129495400	Weak transcription	Fetal Thymus	thymus
34	chr7:129485600-129496000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr7:129485600-129502400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:129485800-129490800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:129485800-129491200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:129485800-129491400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:129485800-129491800	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:129485800-129493200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:129486000-129493400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:129486000-129493800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr7:129486000-129495800	Weak transcription	GM12878-XiMat	blood
44	chr7:129486200-129491600	Weak transcription	Stomach Mucosa	stomach
45	chr7:129486400-129492800	Weak transcription	Adipose Nuclei	Adipose
46	chr7:129486400-129502400	Weak transcription	Esophagus	oesophagus
47	chr7:129486400-129505400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:129486600-129490800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr7:129486600-129491400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:129486600-129491400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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