Variant report

Variant	rs7593050
Chromosome Location	chr2:74316414-74316415
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74211205..74213910-chr2:74316138..74318020,2	MCF-7	breast:
2	chr2:74314378..74316915-chr2:74318069..74319795,2	MCF-7	breast:
3	chr2:74247578..74249346-chr2:74314396..74316715,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	Chromatin interaction
ENSG00000255989	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10164943	1.00[CEU][hapmap];0.84[TSI][hapmap];0.93[EUR][1000 genomes]
rs10168249	0.82[EUR][1000 genomes]
rs10168408	0.82[EUR][1000 genomes]
rs10168410	0.91[EUR][1000 genomes]
rs10179967	0.93[EUR][1000 genomes]
rs10191539	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs10200470	0.91[EUR][1000 genomes]
rs11126424	0.84[EUR][1000 genomes]
rs11683738	1.00[CHB][hapmap]
rs11884748	0.83[EUR][1000 genomes]
rs11885172	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs11886928	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs11898903	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328927	0.87[EUR][1000 genomes]
rs12713804	0.86[CEU][hapmap]
rs12713805	0.81[EUR][1000 genomes]
rs12713806	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs12713808	0.91[EUR][1000 genomes]
rs12713809	0.93[EUR][1000 genomes]
rs12713810	0.95[CEU][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs12988533	0.80[EUR][1000 genomes]
rs12991192	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[ASN][1000 genomes]
rs12995468	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13002080	1.00[CHB][hapmap]
rs13005103	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006301	0.92[EUR][1000 genomes]
rs13006407	0.91[EUR][1000 genomes]
rs13011961	1.00[CHB][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013211	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014576	1.00[CEU][hapmap];0.84[TSI][hapmap];0.94[EUR][1000 genomes]
rs13016198	0.85[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019449	1.00[ASN][1000 genomes]
rs13021880	0.94[EUR][1000 genomes]
rs13027288	0.95[EUR][1000 genomes]
rs13027623	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030414	0.90[EUR][1000 genomes]
rs13387010	0.91[EUR][1000 genomes]
rs17676291	1.00[CHB][hapmap]
rs17725971	1.00[CHB][hapmap]
rs28450901	0.85[EUR][1000 genomes]
rs34136450	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34201525	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35592918	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35609589	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3902790	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4073048	0.94[EUR][1000 genomes]
rs4241260	0.92[EUR][1000 genomes]
rs4270374	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4328662	0.82[EUR][1000 genomes]
rs4331526	0.95[CEU][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs4364046	0.95[CEU][hapmap];0.80[TSI][hapmap];0.86[EUR][1000 genomes]
rs4371381	0.84[EUR][1000 genomes]
rs4374402	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4416242	0.88[EUR][1000 genomes]
rs4422181	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574138	0.95[CEU][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs4578887	0.81[EUR][1000 genomes]
rs4621184	0.91[EUR][1000 genomes]
rs4852326	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs4853003	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs4853005	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs4853006	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs4853007	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs4853009	0.91[EUR][1000 genomes]
rs60279245	0.93[EUR][1000 genomes]
rs6546884	0.80[EUR][1000 genomes]
rs6546885	0.82[EUR][1000 genomes]
rs6546886	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs6546887	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs6706327	0.88[EUR][1000 genomes]
rs6712566	1.00[ASN][1000 genomes]
rs6713313	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6714186	0.81[EUR][1000 genomes]
rs6717896	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741544	0.90[EUR][1000 genomes]
rs6743073	0.81[EUR][1000 genomes]
rs6745236	0.95[CEU][hapmap];0.80[TSI][hapmap];0.91[EUR][1000 genomes]
rs6745576	1.00[CEU][hapmap];0.84[TSI][hapmap];0.93[EUR][1000 genomes]
rs6745792	0.95[CEU][hapmap];0.80[TSI][hapmap];0.91[EUR][1000 genomes]
rs6754218	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755711	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6756474	0.95[CEU][hapmap];0.80[TSI][hapmap];0.91[EUR][1000 genomes]
rs71337722	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71406850	1.00[ASN][1000 genomes]
rs7560668	1.00[CEU][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs7584777	0.95[EUR][1000 genomes]
rs7585240	0.81[CEU][hapmap]
rs7587991	0.91[EUR][1000 genomes]
rs7589915	0.89[EUR][1000 genomes]
rs7592749	0.93[EUR][1000 genomes]
rs7597388	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601526	0.95[CEU][hapmap];0.80[TSI][hapmap];0.91[EUR][1000 genomes]
rs7606491	1.00[CEU][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs870722	1.00[CHB][hapmap]
rs9309478	1.00[CEU][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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
rs7593050	SLC4A5	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
2	chr2:74275800-74317000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:74279200-74317000	Weak transcription	Small Intestine	intestine
4	chr2:74282000-74319600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:74298400-74320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:74299800-74332000	Strong transcription	Dnd41	blood
7	chr2:74299800-74333800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:74300000-74333200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:74300800-74333600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:74301800-74318000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:74303200-74321000	Weak transcription	Fetal Brain Male	brain
12	chr2:74305000-74316600	Weak transcription	Right Atrium	heart
13	chr2:74306000-74332400	Strong transcription	Fetal Intestine Small	intestine
14	chr2:74306400-74332000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr2:74306800-74316800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:74306800-74323000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:74306800-74323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:74306800-74323600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:74306800-74323600	Strong transcription	Brain Germinal Matrix	brain
20	chr2:74306800-74323600	Strong transcription	Fetal Intestine Large	intestine
21	chr2:74306800-74330400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:74307000-74324200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:74307000-74332600	Strong transcription	Primary T cells from cord blood	blood
24	chr2:74307200-74331800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:74307200-74332600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:74307200-74333000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:74307400-74322600	Strong transcription	Fetal Brain Female	brain
28	chr2:74307400-74323600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:74307400-74325200	Strong transcription	Fetal Thymus	thymus
30	chr2:74307400-74326000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:74307400-74330400	Strong transcription	Thymus	Thymus
32	chr2:74307600-74318400	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:74307600-74322800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:74307600-74323600	Strong transcription	Liver	Liver
35	chr2:74307600-74326000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:74307600-74331000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:74307600-74332000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr2:74307600-74333400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:74308000-74316800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:74308000-74323000	Strong transcription	Adipose Nuclei	Adipose
41	chr2:74308200-74332600	Strong transcription	GM12878-XiMat	blood
42	chr2:74308400-74318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:74308400-74336200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:74308600-74318400	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr2:74308600-74323000	Strong transcription	Spleen	Spleen
46	chr2:74308600-74325000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr2:74308600-74333200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:74308800-74318000	Weak transcription	Fetal Kidney	kidney
49	chr2:74308800-74318400	Strong transcription	Brain Angular Gyrus	brain
50	chr2:74308800-74320200	Weak transcription	Osteobl	bone

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