Variant report

Variant	rs57589633
Chromosome Location	chr12:11875061-11875062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11866674..11868220-chr12:11873125..11875611,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2277394	0.91[ASN][1000 genomes]
rs34942088	0.91[ASN][1000 genomes]
rs57640548	0.91[ASN][1000 genomes]
rs57764798	1.00[ASN][1000 genomes]
rs57857300	0.95[ASN][1000 genomes]
rs59702918	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7955206	0.91[ASN][1000 genomes]
rs7963730	0.91[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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:11848800-11879600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:11857000-11876800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:11861800-11876200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:11865200-11879400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:11865800-11879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:11869400-11877400	Enhancers	HUVEC	blood vessel
8	chr12:11870200-11885000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:11870400-11879600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:11870600-11875800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:11870600-11876400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:11870800-11877000	Weak transcription	Colonic Mucosa	Colon
13	chr12:11870800-11879800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:11870800-11879800	Weak transcription	Fetal Kidney	kidney
15	chr12:11872000-11875400	Weak transcription	HepG2	liver
16	chr12:11872200-11880200	Weak transcription	Fetal Brain Male	brain
17	chr12:11872400-11877000	Weak transcription	Dnd41	blood
18	chr12:11872800-11875200	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:11872800-11875600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:11872800-11875600	Weak transcription	Fetal Intestine Large	intestine
21	chr12:11872800-11876600	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:11872800-11878000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:11872800-11879400	Weak transcription	Primary T cells from cord blood	blood
24	chr12:11872800-11880000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:11873000-11875200	Weak transcription	Psoas Muscle	Psoas
26	chr12:11873000-11875600	Weak transcription	Stomach Mucosa	stomach
27	chr12:11873000-11876200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:11873000-11876400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:11873000-11876600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:11873000-11876600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:11873000-11876600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:11873000-11876600	Weak transcription	Fetal Lung	lung
33	chr12:11873000-11876600	Weak transcription	Left Ventricle	heart
34	chr12:11873000-11876600	Weak transcription	Right Atrium	heart
35	chr12:11873000-11876800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:11873000-11876800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:11873000-11876800	Weak transcription	Esophagus	oesophagus
38	chr12:11873000-11876800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:11873000-11876800	Weak transcription	Lung	lung
40	chr12:11873000-11876800	Weak transcription	Pancreas	Pancrea
41	chr12:11873000-11876800	Weak transcription	Right Ventricle	heart
42	chr12:11873000-11877000	Weak transcription	Placenta	Placenta
43	chr12:11873000-11877200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:11873000-11879000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:11873000-11882000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:11873000-11882800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:11873200-11875400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:11873200-11875600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:11873200-11876600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:11873200-11876600	Weak transcription	Spleen	Spleen

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