Variant report

Variant	rs7601526
Chromosome Location	chr2:74278481-74278482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74054472..74056876-chr2:74276543..74278985,2	MCF-7	breast:
2	chr2:74275740..74280453-chr2:74282056..74286021,5	K562	blood:
3	chr2:74276972..74279713-chr2:74280390..74282044,2	MCF-7	breast:
4	chr2:74274697..74276508-chr2:74277029..74279425,2	K562	blood:
5	chr2:74278465..74281592-chr2:74292144..74295348,3	K562	blood:
6	chr2:74211413..74214477-chr2:74275717..74279146,3	MCF-7	breast:
7	chr2:74276566..74278886-chr2:74279074..74282832,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000124356	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10164943	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10168249	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10168408	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10168410	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10179742	0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10179967	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10184542	0.84[ASN][1000 genomes]
rs10191539	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198884	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10200470	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11126424	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11884748	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11885172	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886928	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898903	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12328927	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713803	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12713804	0.91[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12713805	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713806	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713808	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12713809	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713810	0.91[CEU][hapmap];0.92[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12988533	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12995468	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13005103	0.93[EUR][1000 genomes]
rs13006301	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13006407	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011961	0.93[EUR][1000 genomes]
rs13013211	0.91[EUR][1000 genomes]
rs13014576	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13016198	1.00[CEU][hapmap];0.87[TSI][hapmap];0.94[EUR][1000 genomes]
rs13021880	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13027288	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13027623	0.89[EUR][1000 genomes]
rs13030414	0.89[EUR][1000 genomes]
rs13387010	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13387412	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13396777	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs28450901	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28460865	0.90[ASN][1000 genomes]
rs34136450	0.91[EUR][1000 genomes]
rs34201525	0.90[EUR][1000 genomes]
rs35592918	0.90[EUR][1000 genomes]
rs35609589	0.90[EUR][1000 genomes]
rs3902790	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4073048	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4241260	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4270374	0.82[EUR][1000 genomes]
rs4328662	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4331526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4338985	0.92[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs4364046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371381	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4374402	0.90[EUR][1000 genomes]
rs4416242	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4422181	0.83[EUR][1000 genomes]
rs4574138	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4578887	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4621184	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4852326	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853003	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4853005	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853007	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853009	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60279245	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546884	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6546885	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546886	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6546889	1.00[JPT][hapmap]
rs6706327	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6713313	0.85[EUR][1000 genomes]
rs6714186	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6717896	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs6741544	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6743073	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6745236	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745576	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6745792	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754218	0.95[EUR][1000 genomes]
rs6755711	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6756474	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71337722	0.94[EUR][1000 genomes]
rs7560668	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]
rs7568898	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7574306	0.82[ASN][1000 genomes]
rs7584777	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7587991	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7589915	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592749	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7593050	0.95[CEU][hapmap];0.80[TSI][hapmap];0.91[EUR][1000 genomes]
rs7595401	0.92[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7597388	0.93[EUR][1000 genomes]
rs7606491	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]
rs9309478	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7601526	SLC4A5	cis	parietal	SCAN

Chromatin state (count:111 , 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	chr2:74265000-74300600	Weak transcription	Fetal Brain Male	brain
3	chr2:74265400-74315000	Weak transcription	HUVEC	blood vessel
4	chr2:74266400-74287200	Weak transcription	HSMM	muscle
5	chr2:74269000-74280200	Weak transcription	HSMMtube	muscle
6	chr2:74269000-74300200	Weak transcription	Fetal Kidney	kidney
7	chr2:74269400-74279400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
9	chr2:74270600-74280800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:74270600-74281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:74270800-74278600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:74270800-74280400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:74271000-74280200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:74271600-74287600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:74272600-74279000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:74272600-74279200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:74272600-74279200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:74272800-74279000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:74272800-74285600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:74273000-74282600	Weak transcription	Right Atrium	heart
21	chr2:74273000-74285000	Weak transcription	HMEC	breast
22	chr2:74273200-74293800	Weak transcription	Fetal Lung	lung
23	chr2:74274200-74280000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:74274400-74286400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:74274800-74281000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:74275200-74307800	Weak transcription	Aorta	Aorta
27	chr2:74275600-74280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:74275600-74285800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:74275600-74304000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:74275800-74281000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:74275800-74301400	Weak transcription	A549	lung
32	chr2:74275800-74301600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:74275800-74307800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:74275800-74317000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:74276000-74279400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:74276000-74280400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:74276000-74280400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:74276000-74285800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:74276000-74294800	Weak transcription	Right Ventricle	heart
40	chr2:74276200-74279800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:74276200-74279800	Enhancers	Brain Substantia Nigra	brain
42	chr2:74276200-74280400	Weak transcription	Placenta	Placenta
43	chr2:74276200-74280800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:74276200-74307600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:74276400-74279800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:74276600-74278600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:74276600-74278800	Weak transcription	Brain Anterior Caudate	brain
48	chr2:74276600-74280400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:74276600-74281600	Enhancers	Brain Hippocampus Middle	brain
50	chr2:74276600-74284000	Weak transcription	H9 Cell Line	embryonic stem cell

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