Variant report

Variant	rs2076583
Chromosome Location	chr6:134304023-134304024
allele	A/G
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	chr6:134301184-134306312	K562	blood:	n/a	n/a

Variant related genes	Relation type
TBPL1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11154754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385066	1.00[ASW][hapmap];0.82[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs162191	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs162192	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs167876	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs228867	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2300197	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35776966	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3756877	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3777892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs380825	0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs459625	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4896019	0.90[CHD][hapmap]
rs6919121	0.92[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs9321424	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373073	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9375994	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9385674	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9389124	0.91[CHD][hapmap];0.83[ASN][1000 genomes]
rs9399084	0.83[EUR][1000 genomes]
rs9402553	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats 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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134276600-134314000	Weak transcription	Thymus	Thymus
2	chr6:134280400-134304200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:134280600-134312200	Weak transcription	Lung	lung
4	chr6:134283200-134305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:134285000-134316600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:134286800-134304200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:134288200-134311800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:134288400-134306600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:134289800-134304200	Weak transcription	Fetal Stomach	stomach
10	chr6:134290000-134304200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:134290800-134316400	Weak transcription	Esophagus	oesophagus
12	chr6:134292600-134304400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:134294400-134304200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:134294600-134304200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:134295000-134313800	Weak transcription	Spleen	Spleen
16	chr6:134295200-134311800	Weak transcription	Brain Germinal Matrix	brain
17	chr6:134296400-134304400	Weak transcription	Pancreas	Pancrea
18	chr6:134297000-134318000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:134297200-134304200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:134297600-134304800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:134297800-134304200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:134298400-134304200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr6:134299400-134304200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:134299400-134304400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:134299400-134304600	Weak transcription	Right Atrium	heart
26	chr6:134299400-134307200	Weak transcription	Left Ventricle	heart
27	chr6:134299400-134311800	Weak transcription	Gastric	stomach
28	chr6:134299400-134312000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:134299400-134313200	Weak transcription	Psoas Muscle	Psoas
30	chr6:134299400-134313400	Weak transcription	Aorta	Aorta
31	chr6:134299400-134313800	Weak transcription	Right Ventricle	heart
32	chr6:134299600-134304200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:134299600-134310200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:134299800-134304200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr6:134299800-134304200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:134299800-134304400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:134299800-134305800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:134299800-134307000	Weak transcription	Ovary	ovary
39	chr6:134299800-134312000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:134299800-134313600	Weak transcription	Fetal Heart	heart
41	chr6:134299800-134314000	Weak transcription	Fetal Brain Male	brain
42	chr6:134300000-134304200	Weak transcription	Brain Substantia Nigra	brain
43	chr6:134300000-134304400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr6:134300400-134312200	Weak transcription	Small Intestine	intestine
45	chr6:134300400-134315400	Weak transcription	Fetal Intestine Small	intestine
46	chr6:134300600-134304200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:134300600-134305000	Strong transcription	Primary B cells from cord blood	blood
48	chr6:134300600-134305800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:134300600-134306800	Weak transcription	Stomach Mucosa	stomach
50	chr6:134300600-134312000	Weak transcription	NHLF	lung

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