Variant report

Variant	rs7560668
Chromosome Location	chr2:74300717-74300718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74296119..74298697-chr2:74300085..74304083,6	K562	blood:
2	chr2:74299880..74303029-chr2:74304930..74306783,3	K562	blood:
3	chr2:74299165..74300793-chr2:74302480..74304693,2	MCF-7	breast:
4	chr2:74211335..74216336-chr2:74300187..74305558,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	Chromatin interaction
ENSG00000255989	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10164943	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10168249	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10168408	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10168410	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10179742	0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10179967	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10186781	0.84[ASN][1000 genomes]
rs10191539	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10192993	0.84[ASN][1000 genomes]
rs10198884	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10200470	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11126424	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11884748	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11885172	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11886928	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11898903	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs12328927	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12713803	0.82[EUR][1000 genomes]
rs12713804	0.86[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs12713805	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12713806	0.95[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12713808	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12713809	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12713810	0.95[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12988533	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12995468	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs13005103	0.92[EUR][1000 genomes]
rs13006301	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13006407	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13011961	0.92[EUR][1000 genomes]
rs13013211	0.93[EUR][1000 genomes]
rs13014576	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13016198	0.95[CEU][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes]
rs13021880	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13027288	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13027623	0.85[EUR][1000 genomes]
rs13030414	0.84[EUR][1000 genomes]
rs13387010	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13387412	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13396777	0.84[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13413697	0.84[ASN][1000 genomes]
rs13426799	0.84[ASN][1000 genomes]
rs28450901	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28460865	0.83[ASN][1000 genomes]
rs34136450	0.93[EUR][1000 genomes]
rs34201525	0.95[EUR][1000 genomes]
rs35592918	0.86[EUR][1000 genomes]
rs35609589	0.85[EUR][1000 genomes]
rs3902790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073048	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4241260	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4328662	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4331526	0.95[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4338985	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4364046	0.95[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4371381	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4374402	0.85[EUR][1000 genomes]
rs4416242	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4574138	0.95[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4578887	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4621184	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4852326	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4853003	0.95[CEU][hapmap];0.92[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4853005	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4853006	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4853007	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4853009	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60279245	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6546884	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6546885	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6546886	0.90[CEU][hapmap];0.84[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6546887	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6546889	0.84[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6706327	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6713313	0.81[EUR][1000 genomes]
rs6714186	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6717896	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs6741544	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6743073	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6745236	0.95[CEU][hapmap];0.84[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6745576	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745792	0.95[CEU][hapmap];0.84[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6754218	0.90[EUR][1000 genomes]
rs6755711	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756474	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71337722	0.89[EUR][1000 genomes]
rs7568898	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7574306	0.81[ASN][1000 genomes]
rs7584777	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7585240	0.81[CEU][hapmap]
rs7587991	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7589915	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7592749	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593050	1.00[CEU][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs7595401	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7597388	0.92[EUR][1000 genomes]
rs7601526	0.95[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7606491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv874284	chr2:74283728-74348797	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7560668	SLC4A5	cis	parietal	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74264800-74311000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:74265400-74315000	Weak transcription	HUVEC	blood vessel
3	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
4	chr2:74275200-74307800	Weak transcription	Aorta	Aorta
5	chr2:74275600-74304000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:74275800-74301400	Weak transcription	A549	lung
7	chr2:74275800-74301600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:74275800-74307800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:74275800-74317000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:74276200-74307600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:74276800-74300800	Weak transcription	Liver	Liver
12	chr2:74276800-74307400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:74277000-74307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:74277000-74308000	Weak transcription	Adipose Nuclei	Adipose
15	chr2:74277200-74301200	Weak transcription	HepG2	liver
16	chr2:74277200-74302600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:74277200-74307600	Weak transcription	Spleen	Spleen
18	chr2:74277200-74307600	Weak transcription	Hela-S3	cervix
19	chr2:74277600-74306800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:74279200-74317000	Weak transcription	Small Intestine	intestine
21	chr2:74280800-74301000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:74280800-74301600	Weak transcription	HSMMtube	muscle
23	chr2:74281200-74306800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:74281400-74301400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:74281600-74302600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:74281600-74307600	Weak transcription	Pancreas	Pancrea
27	chr2:74281800-74310200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:74282000-74319600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:74282200-74300800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:74282600-74303200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:74284200-74307800	Weak transcription	Esophagus	oesophagus
32	chr2:74287000-74301200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:74287000-74301600	Weak transcription	Stomach Mucosa	stomach
34	chr2:74287400-74300800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:74287400-74302600	Weak transcription	Thymus	Thymus
36	chr2:74287400-74306600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:74287400-74314000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:74287600-74300800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:74287600-74301000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:74287600-74310600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:74290600-74301000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:74291800-74307400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:74293400-74301200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:74294000-74303800	Weak transcription	Brain Substantia Nigra	brain
45	chr2:74294000-74307600	Weak transcription	Ovary	ovary
46	chr2:74294200-74300800	Weak transcription	Fetal Brain Female	brain
47	chr2:74294200-74301000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:74294200-74301400	Weak transcription	Brain Anterior Caudate	brain
49	chr2:74294400-74301200	Weak transcription	Fetal Lung	lung
50	chr2:74294400-74307200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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