Variant report

Variant	rs57857300
Chromosome Location	chr12:11870681-11870682
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	chr12:11866438..11867987-chr12:11870275..11871860,2	MCF-7	breast:
2	chr12:11844342..11846222-chr12:11870101..11872363,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2277394	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34942088	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57589633	0.95[ASN][1000 genomes]
rs57640548	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57764798	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7955206	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7963730	0.83[EUR][1000 genomes];0.86[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:116 , 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	chr12:11838800-11872200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:11848000-11872200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:11848800-11879600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:11853000-11872000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:11854800-11872600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:11855200-11871800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:11857000-11876800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:11859200-11872000	Weak transcription	HSMMtube	muscle
10	chr12:11860400-11871600	Weak transcription	Placenta	Placenta
11	chr12:11860800-11871000	Weak transcription	Fetal Brain Male	brain
12	chr12:11860800-11871200	Weak transcription	Lung	lung
13	chr12:11861200-11872400	Strong transcription	Dnd41	blood
14	chr12:11861800-11876200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:11862000-11872000	Weak transcription	HSMM	muscle
16	chr12:11863600-11871200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:11864000-11871200	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:11864200-11872600	Weak transcription	Psoas Muscle	Psoas
19	chr12:11865000-11871800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:11865200-11879400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:11865800-11872800	Genic enhancers	GM12878-XiMat	blood
22	chr12:11865800-11879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:11866000-11872000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:11866600-11872000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:11866800-11873200	Enhancers	Liver	Liver
26	chr12:11867000-11873200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:11867200-11872000	Weak transcription	A549	lung
28	chr12:11867600-11873000	Enhancers	Left Ventricle	heart
29	chr12:11867800-11871000	Weak transcription	Right Ventricle	heart
30	chr12:11867800-11872000	Weak transcription	Spleen	Spleen
31	chr12:11868400-11872800	Enhancers	Fetal Intestine Large	intestine
32	chr12:11868400-11873200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:11868400-11873600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr12:11868600-11871800	Weak transcription	Primary B cells from cord blood	blood
35	chr12:11868600-11872000	Weak transcription	Right Atrium	heart
36	chr12:11868600-11872400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr12:11868800-11873400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:11869000-11871800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr12:11869400-11872400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:11869400-11872600	Enhancers	NH-A	brain
41	chr12:11869400-11873000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr12:11869400-11873200	Enhancers	Brain Anterior Caudate	brain
43	chr12:11869400-11873200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr12:11869400-11873400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:11869400-11873400	Genic enhancers	Fetal Thymus	thymus
46	chr12:11869400-11873400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr12:11869400-11873600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:11869400-11877400	Enhancers	HUVEC	blood vessel
49	chr12:11869600-11870800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:11869600-11871200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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