Variant report

Variant	rs2268067
Chromosome Location	chr6:134303012-134303013
allele	A/C
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	chr6:134302890-134303585	K562	blood:	n/a	n/a
2	POLR2A	chr6:134302938-134303995	K562	blood:	n/a	n/a
3	POLR2A	chr6:134301184-134306312	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134294835..134297356-chr6:134301505..134303429,2	K562	blood:
2	chr6:134293697..134297795-chr6:134300055..134303954,5	K562	blood:

Variant related genes	Relation type
TBPL1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10485159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17063199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17063210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17063219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2268068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2268069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2268071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3756876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3777897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4896016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4896018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6938805	1.00[EUR][1000 genomes]
rs9493782	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs956103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134276600-134314000	Weak transcription	Thymus	Thymus
2	chr6:134278000-134303600	Weak transcription	Dnd41	blood
3	chr6:134280400-134304200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:134280600-134312200	Weak transcription	Lung	lung
5	chr6:134283200-134305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:134285000-134316600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:134286800-134304200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr6:134288200-134311800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:134288400-134306600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:134289800-134304200	Weak transcription	Fetal Stomach	stomach
11	chr6:134290000-134304200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:134290800-134316400	Weak transcription	Esophagus	oesophagus
13	chr6:134291800-134304000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:134292600-134304400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:134294400-134304200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:134294600-134303600	Weak transcription	Primary T cells from cord blood	blood
17	chr6:134294600-134304200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr6:134295000-134303800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:134295000-134303800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:134295000-134313800	Weak transcription	Spleen	Spleen
21	chr6:134295200-134311800	Weak transcription	Brain Germinal Matrix	brain
22	chr6:134296400-134304400	Weak transcription	Pancreas	Pancrea
23	chr6:134297000-134318000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr6:134297200-134304200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:134297600-134304800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:134297800-134304200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:134298400-134304200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr6:134299400-134303200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:134299400-134303800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:134299400-134304200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:134299400-134304400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:134299400-134304600	Weak transcription	Right Atrium	heart
33	chr6:134299400-134307200	Weak transcription	Left Ventricle	heart
34	chr6:134299400-134311800	Weak transcription	Gastric	stomach
35	chr6:134299400-134312000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:134299400-134313200	Weak transcription	Psoas Muscle	Psoas
37	chr6:134299400-134313400	Weak transcription	Aorta	Aorta
38	chr6:134299400-134313800	Weak transcription	Right Ventricle	heart
39	chr6:134299600-134304200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:134299600-134310200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:134299800-134303600	Weak transcription	Fetal Brain Female	brain
42	chr6:134299800-134304200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr6:134299800-134304200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr6:134299800-134304400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:134299800-134305800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr6:134299800-134307000	Weak transcription	Ovary	ovary
47	chr6:134299800-134312000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:134299800-134313600	Weak transcription	Fetal Heart	heart
49	chr6:134299800-134314000	Weak transcription	Fetal Brain Male	brain
50	chr6:134300000-134304200	Weak transcription	Brain Substantia Nigra	brain

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