Variant report

Variant	rs12170250
Chromosome Location	chr22:29538730-29538731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9625702	1.00[YRI][hapmap];0.92[AFR][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
3	chr22:29517200-29546200	Strong transcription	Dnd41	blood
4	chr22:29522400-29541600	Weak transcription	HMEC	breast
5	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
6	chr22:29525800-29544400	Weak transcription	NHLF	lung
7	chr22:29526200-29542800	Weak transcription	Fetal Heart	heart
8	chr22:29526200-29547000	Weak transcription	K562	blood
9	chr22:29527600-29548000	Strong transcription	Fetal Intestine Small	intestine
10	chr22:29528000-29539000	Strong transcription	Ovary	ovary
11	chr22:29528600-29544400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:29529400-29547000	Strong transcription	Thymus	Thymus
13	chr22:29530000-29541400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:29530800-29546800	Genic enhancers	Fetal Muscle Leg	muscle
15	chr22:29531000-29540800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:29531000-29541000	Strong transcription	Stomach Smooth Muscle	stomach
17	chr22:29531200-29539000	Strong transcription	Esophagus	oesophagus
18	chr22:29531600-29542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr22:29531600-29548400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:29533000-29543200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:29533000-29545600	Strong transcription	Fetal Intestine Large	intestine
22	chr22:29533200-29543200	Strong transcription	Fetal Stomach	stomach
23	chr22:29533400-29538800	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr22:29533400-29539400	Strong transcription	Brain Anterior Caudate	brain
25	chr22:29533600-29542400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr22:29533800-29539800	Strong transcription	Brain Germinal Matrix	brain
27	chr22:29533800-29543600	Strong transcription	Fetal Brain Female	brain
28	chr22:29534600-29540600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:29534800-29540400	Weak transcription	Gastric	stomach
30	chr22:29534800-29545600	Weak transcription	Aorta	Aorta
31	chr22:29535400-29540600	Weak transcription	NHEK	skin
32	chr22:29535600-29539400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
33	chr22:29535800-29538800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr22:29535800-29538800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:29536000-29541000	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr22:29536400-29539400	Strong transcription	Fetal Thymus	thymus
37	chr22:29536400-29539600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr22:29536400-29539800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:29536400-29540200	Weak transcription	Spleen	Spleen
40	chr22:29536400-29542400	Weak transcription	Brain Substantia Nigra	brain
41	chr22:29536400-29543000	Weak transcription	Brain Angular Gyrus	brain
42	chr22:29536600-29538800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr22:29536600-29543000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr22:29536600-29548200	Weak transcription	Fetal Kidney	kidney
45	chr22:29536800-29540400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr22:29536800-29540400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr22:29536800-29541200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr22:29537000-29541800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:29537000-29543600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:29537200-29538800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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