Variant report

Variant	rs12695768
Chromosome Location	chr3:142367225-142367226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142360347..142363924-chr3:142363947..142367785,4	K562	blood:
2	chr3:142317493..142320182-chr3:142367082..142368859,2	MCF-7	breast:
3	chr3:142366648..142369083-chr3:142371257..142373675,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11715610	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12695767	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13058771	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13069113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13079246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13080785	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13099848	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13100985	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357529	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1357530	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16852486	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17623267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916639	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1983434	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1983435	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2012010	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030613	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2049325	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2049326	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2140432	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2177396	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2354175	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2354860	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2883380	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3736560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736561	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413348	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4683688	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4683689	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4683690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4683691	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6440098	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6440099	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6440102	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6775813	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6783203	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6784089	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6784361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6785894	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6789958	0.90[EUR][1000 genomes]
rs6793735	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6797492	0.92[ASN][1000 genomes]
rs6798232	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6802734	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6802774	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6808205	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6808302	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7430429	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7609842	0.84[ASN][1000 genomes]
rs7615316	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7631313	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7635146	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7646880	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7648354	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs940211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs940212	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9824176	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9824893	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9832606	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9866958	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9882763	0.81[AMR][1000 genomes];0.85[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	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142357000-142371400	Weak transcription	Aorta	Aorta
2	chr3:142360800-142371400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:142362600-142371200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:142364200-142367800	Enhancers	Stomach Mucosa	stomach
5	chr3:142364400-142371800	Weak transcription	HepG2	liver
6	chr3:142364600-142368400	Weak transcription	Liver	Liver
7	chr3:142364800-142369400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:142365000-142369000	Weak transcription	NH-A	brain
9	chr3:142365000-142371600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:142365600-142367400	Enhancers	HMEC	breast
11	chr3:142365600-142367400	Enhancers	NHEK	skin
12	chr3:142365600-142367800	Enhancers	Duodenum Mucosa	Duodenum
13	chr3:142365600-142369200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:142365600-142369400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr3:142365800-142369200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:142366000-142435400	Weak transcription	Colonic Mucosa	Colon
17	chr3:142366400-142367800	Enhancers	Fetal Intestine Small	intestine
18	chr3:142366600-142367400	Enhancers	A549	lung
19	chr3:142366600-142367800	Enhancers	Fetal Intestine Large	intestine
20	chr3:142366600-142367800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr3:142367200-142370600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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