Variant report

Variant	rs2971882
Chromosome Location	chr2:54861172-54861173
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	chr2:54859857..54861976-chr2:54864372..54866931,2	K562	blood:
2	chr2:54856136..54858884-chr2:54860390..54861894,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10176359	0.93[YRI][hapmap]
rs12623169	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12713273	0.85[LWK][hapmap];0.93[YRI][hapmap]
rs2941580	0.88[EUR][1000 genomes]
rs2941595	0.82[JPT][hapmap]
rs2971886	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6545432	1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[ASN][1000 genomes]
rs6545435	0.91[LWK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs7569127	0.93[YRI][hapmap]

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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2971882	SPTBN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54838800-54893400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:54839000-54864200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:54839200-54861800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:54839200-54866000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:54839600-54862600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:54840800-54861400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:54841000-54861400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:54841000-54861400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:54841200-54861200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:54842000-54863600	Strong transcription	Fetal Brain Female	brain
13	chr2:54842400-54861400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:54842400-54862800	Strong transcription	NHEK	skin
15	chr2:54842600-54892000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:54842800-54862400	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr2:54842800-54867800	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr2:54843000-54861400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:54846200-54861400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:54846200-54864400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:54846400-54895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:54846400-54896600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:54846600-54861800	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr2:54846600-54898000	Strong transcription	Dnd41	blood
25	chr2:54846800-54895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:54847400-54865800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:54848000-54868800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:54848400-54861200	Strong transcription	Colon Smooth Muscle	Colon
29	chr2:54848600-54892400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:54850600-54864200	Genic enhancers	Liver	Liver
31	chr2:54851800-54864200	Genic enhancers	Left Ventricle	heart
32	chr2:54856600-54862000	Genic enhancers	Stomach Smooth Muscle	stomach
33	chr2:54856600-54862600	Genic enhancers	Lung	lung
34	chr2:54856800-54862200	Genic enhancers	Adipose Nuclei	Adipose
35	chr2:54857000-54861600	Genic enhancers	Muscle Satellite Cultured Cells	--
36	chr2:54857000-54861600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:54857000-54862000	Genic enhancers	NHLF	lung
38	chr2:54857000-54862400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:54857000-54869400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:54857000-54883400	Strong transcription	Hela-S3	cervix
41	chr2:54857200-54862800	Enhancers	Right Atrium	heart
42	chr2:54857400-54862800	Strong transcription	Fetal Brain Male	brain
43	chr2:54857400-54864000	Genic enhancers	Fetal Lung	lung
44	chr2:54857800-54862400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:54858200-54861400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:54858200-54862000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:54858400-54861600	Genic enhancers	NHDF-Ad	bronchial
48	chr2:54858400-54862200	Strong transcription	Fetal Intestine Large	intestine
49	chr2:54858600-54863800	Strong transcription	Colonic Mucosa	Colon
50	chr2:54858600-54864200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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