Variant report

Variant	rs2297834
Chromosome Location	chr6:45870148-45870149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1128514	0.92[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34208595	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34522587	0.97[EUR][1000 genomes]
rs34866782	0.87[EUR][1000 genomes]
rs35143374	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35448663	0.87[EUR][1000 genomes]
rs35489689	0.87[EUR][1000 genomes]
rs3777562	0.85[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs3814071	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714887	0.98[ASN][1000 genomes]
rs4714888	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6458476	0.88[EUR][1000 genomes]
rs6458477	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs67715157	0.97[EUR][1000 genomes]
rs67919193	0.94[EUR][1000 genomes]
rs6911790	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs6918415	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935445	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs6937735	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7746554	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746593	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773041	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9969032	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9969070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3353738	chr6:45870069-45870469	Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45866200-45871000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr6:45866400-45880000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:45866600-45898400	Weak transcription	Colonic Mucosa	Colon
4	chr6:45867000-45871200	Strong transcription	Fetal Intestine Small	intestine
5	chr6:45867200-45870200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr6:45867400-45870400	Genic enhancers	Left Ventricle	heart
7	chr6:45867600-45870200	Weak transcription	Placenta	Placenta
8	chr6:45867800-45870600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:45867800-45871000	Strong transcription	Fetal Intestine Large	intestine
10	chr6:45867800-45884200	Weak transcription	Fetal Heart	heart
11	chr6:45868600-45870400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:45868600-45870800	Enhancers	Fetal Muscle Leg	muscle
13	chr6:45868600-45871200	Enhancers	Psoas Muscle	Psoas
14	chr6:45868800-45889600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:45869000-45870400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:45869000-45870400	Genic enhancers	Right Ventricle	heart
17	chr6:45869000-45871000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:45869000-45879600	Weak transcription	Adipose Nuclei	Adipose
19	chr6:45869200-45870200	Enhancers	Fetal Muscle Trunk	muscle
20	chr6:45869200-45871400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr6:45869200-45871400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
22	chr6:45869400-45870200	Weak transcription	Right Atrium	heart
23	chr6:45869600-45870200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:45869600-45871000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:45869800-45870200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:45869800-45870800	Weak transcription	Brain Anterior Caudate	brain
27	chr6:45870000-45870200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:45870000-45870200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr6:45870000-45870200	Enhancers	Brain Germinal Matrix	brain
30	chr6:45870000-45870200	Enhancers	HSMMtube	muscle
31	chr6:45870000-45870400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr6:45870000-45870400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr6:45870000-45870400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:45870000-45870400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr6:45870000-45871000	Strong transcription	Lung	lung
36	chr6:45870000-45871200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr6:45870000-45881800	Weak transcription	Primary T cells fromperipheralblood	blood

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