Variant report

Variant	rs7992346
Chromosome Location	chr13:98008107-98008108
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:97998178-98014027	K562	blood:	n/a	n/a

Variant related genes	Relation type
MBNL2	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11839205	0.91[CEU][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11843522	0.91[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1553010	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.83[EUR][1000 genomes]
rs1553011	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.83[EUR][1000 genomes]
rs17301432	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs3782984	0.82[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3782986	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs875104	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[YRI][hapmap];0.83[EUR][1000 genomes]
rs9300406	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9513238	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9516916	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9582128	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9584552	0.90[CHB][hapmap]
rs9584563	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9584565	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];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	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97982000-98009000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:97982600-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr13:97991600-98020800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr13:97992800-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:97994200-98016200	Weak transcription	NHDF-Ad	bronchial
6	chr13:97995200-98011000	Strong transcription	Placenta	Placenta
7	chr13:97995400-98050200	Weak transcription	Small Intestine	intestine
8	chr13:97996200-98019400	Weak transcription	GM12878-XiMat	blood
9	chr13:97997400-98011600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:97997400-98019000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr13:97997600-98008400	Weak transcription	K562	blood
12	chr13:97998400-98015800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:97999600-98019200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr13:98000000-98009600	Weak transcription	Gastric	stomach
15	chr13:98000200-98008800	Weak transcription	Right Ventricle	heart
16	chr13:98001400-98008400	Weak transcription	NHEK	skin
17	chr13:98002200-98009600	Weak transcription	Esophagus	oesophagus
18	chr13:98002400-98009000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr13:98002400-98027200	Weak transcription	Lung	lung
20	chr13:98002400-98039600	Weak transcription	Spleen	Spleen
21	chr13:98002600-98013600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr13:98002600-98021600	Weak transcription	Colonic Mucosa	Colon
23	chr13:98002800-98009800	Weak transcription	Fetal Thymus	thymus
24	chr13:98003200-98021200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr13:98003600-98009800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:98003800-98009600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:98003800-98009800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr13:98003800-98011600	Weak transcription	Brain Germinal Matrix	brain
29	chr13:98003800-98011600	Weak transcription	Colon Smooth Muscle	Colon
30	chr13:98003800-98012800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr13:98003800-98013000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr13:98003800-98018000	Weak transcription	Fetal Brain Male	brain
33	chr13:98003800-98019000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:98004000-98009000	Weak transcription	A549	lung
35	chr13:98004000-98009400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr13:98004000-98009600	Weak transcription	Pancreas	Pancrea
37	chr13:98004000-98013000	Weak transcription	Ovary	ovary
38	chr13:98004000-98013200	Weak transcription	Fetal Kidney	kidney
39	chr13:98004000-98018600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr13:98004000-98019200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr13:98004000-98021000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr13:98004200-98008800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:98004200-98009400	Weak transcription	Aorta	Aorta
44	chr13:98004200-98009600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr13:98004200-98010200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:98004200-98012800	Weak transcription	Fetal Stomach	stomach
47	chr13:98004200-98014200	Weak transcription	Fetal Intestine Small	intestine
48	chr13:98004400-98011000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:98004400-98011600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:98004400-98019400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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