Variant report

Variant	rs2327431
Chromosome Location	chr6:134211922-134211923
allele	C/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	chr6:134211768-134214546	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr6:134211788-134215010	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr6:134210055-134213032	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000227954	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1208276	0.89[CEU][hapmap]
rs1208277	0.89[CEU][hapmap]
rs1414669	0.81[EUR][1000 genomes]
rs149418	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1572425	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.86[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];1.00[ASN][1000 genomes]
rs162183	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162184	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162186	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162187	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162188	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2327433	1.00[CEU][hapmap];0.91[JPT][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs2327434	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328455	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs328456	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896011	1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4896012	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56412384	0.80[AFR][1000 genomes]
rs6569916	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6932322	0.87[CEU][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs693702	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766238	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7774514	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9389113	0.88[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9389114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402546	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134208800-134212000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
2	chr6:134209000-134212200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
3	chr6:134209200-134215200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
4	chr6:134209400-134212200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
5	chr6:134209400-134212400	Bivalent/Poised TSS	Colonic Mucosa	Colon
6	chr6:134209400-134214000	Active TSS	Ovary	ovary
7	chr6:134209600-134212000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
8	chr6:134209800-134213200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:134209800-134213200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:134210000-134212000	Bivalent/Poised TSS	Fetal Kidney	kidney
11	chr6:134210000-134212200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
12	chr6:134210000-134212400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:134210000-134212400	Bivalent/Poised TSS	Placenta	Placenta
14	chr6:134210000-134213000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
15	chr6:134210000-134213000	Bivalent/Poised TSS	Left Ventricle	heart
16	chr6:134210000-134213200	Bivalent/Poised TSS	Fetal Stomach	stomach
17	chr6:134210000-134214000	Active TSS	NHLF	lung
18	chr6:134210200-134212000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:134210200-134213000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:134210400-134212000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
21	chr6:134210400-134212800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:134210600-134212000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:134210800-134212000	Bivalent Enhancer	Primary B cells from cord blood	blood
24	chr6:134210800-134212000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
25	chr6:134210800-134212200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr6:134210800-134212200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:134210800-134212200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:134211000-134212000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
29	chr6:134211000-134212000	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr6:134211000-134212000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr6:134211000-134212200	Bivalent Enhancer	Liver	Liver
32	chr6:134211000-134212400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
33	chr6:134211000-134212400	Active TSS	Right Atrium	heart
34	chr6:134211200-134212000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
35	chr6:134211200-134212000	Weak transcription	HSMM	muscle
36	chr6:134211200-134212800	Bivalent/Poised TSS	NHDF-Ad	bronchial
37	chr6:134211200-134213600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:134211200-134214400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
39	chr6:134211400-134212000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
40	chr6:134211400-134212000	Bivalent Enhancer	Brain Hippocampus Middle	brain
41	chr6:134211400-134212200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:134211400-134212200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
43	chr6:134211400-134212200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr6:134211400-134212200	Bivalent/Poised TSS	Fetal Brain Male	brain
45	chr6:134211400-134212200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
46	chr6:134211400-134212200	Weak transcription	Lung	lung
47	chr6:134211400-134212200	Active TSS	Right Ventricle	heart
48	chr6:134211400-134212400	Bivalent/Poised TSS	Fetal Lung	lung
49	chr6:134211400-134212400	Weak transcription	Gastric	stomach
50	chr6:134211400-134212400	Weak transcription	Pancreas	Pancrea

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