Variant report

Variant	rs6743846
Chromosome Location	chr2:10480415-10480416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10478597..10480494-chr2:10502284..10504436,2	MCF-7	breast:
2	chr2:10475838..10478793-chr2:10479239..10481530,2	K562	blood:
3	chr2:10480270..10481880-chr2:10548259..10550783,2	MCF-7	breast:
4	chr2:10479084..10480668-chr2:10482824..10485763,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11891604	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12328290	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402238	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558628	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558629	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55638790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56011627	0.83[EUR][1000 genomes]
rs56261863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57128023	0.88[EUR][1000 genomes]
rs59408255	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60661460	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735172	0.94[EUR][1000 genomes]
rs6745569	0.85[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs6751416	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs6755410	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758633	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758955	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161267	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161277	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161279	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161280	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7557360	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581642	0.84[CEU][hapmap];1.00[JPT][hapmap];0.90[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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873641	chr2:10480415-10544640	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10467200-10482800	Weak transcription	Psoas Muscle	Psoas
2	chr2:10472200-10482600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:10472200-10494200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:10472400-10486200	Weak transcription	Esophagus	oesophagus
5	chr2:10473000-10483400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:10473000-10484400	Weak transcription	Right Atrium	heart
7	chr2:10473000-10484800	Weak transcription	Osteobl	bone
8	chr2:10473000-10486000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:10473000-10486000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:10473000-10486000	Weak transcription	HUVEC	blood vessel
11	chr2:10473000-10489200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:10473400-10484800	Weak transcription	Small Intestine	intestine
13	chr2:10473400-10496200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:10473600-10487200	Weak transcription	Colonic Mucosa	Colon
15	chr2:10473800-10482400	Weak transcription	Left Ventricle	heart
16	chr2:10473800-10483400	Weak transcription	Ovary	ovary
17	chr2:10475600-10480600	Weak transcription	Spleen	Spleen
18	chr2:10475600-10481200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:10475600-10482400	Weak transcription	HSMM	muscle
20	chr2:10475600-10483800	Weak transcription	Fetal Lung	lung
21	chr2:10475600-10485200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:10475800-10480600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:10475800-10480800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:10475800-10481000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:10475800-10481600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:10475800-10482800	Weak transcription	Brain Anterior Caudate	brain
27	chr2:10475800-10482800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:10475800-10483000	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:10475800-10483800	Weak transcription	Primary B cells from cord blood	blood
30	chr2:10475800-10484000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:10475800-10484200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:10475800-10486200	Weak transcription	HSMMtube	muscle
33	chr2:10476000-10485200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:10476400-10488600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:10476600-10480800	Strong transcription	Fetal Intestine Small	intestine
36	chr2:10478000-10483400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:10478200-10483000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:10478400-10481000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr2:10478400-10481000	Enhancers	HMEC	breast
40	chr2:10478400-10484000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:10478600-10481400	Enhancers	NHEK	skin
42	chr2:10478600-10481800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:10478600-10481800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:10478800-10481600	Weak transcription	HepG2	liver
45	chr2:10478800-10482000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr2:10478800-10482600	Enhancers	Placenta	Placenta
47	chr2:10478800-10488400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:10479200-10480600	Strong transcription	Fetal Intestine Large	intestine
49	chr2:10479200-10480800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:10479200-10483400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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