Variant report

Variant	rs6713811
Chromosome Location	chr2:148631535-148631536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr2:148631477-148631541	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA3	chr2:148631371-148631678	SH-SY5Y	brain:	n/a	chr2:148631496-148631505

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148626522..148628256-chr2:148630223..148632978,2	K562	blood:

Variant related genes	Relation type
RNU6-1275P	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10180655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11686483	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12105745	0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1227304	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1234416	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12622150	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12989087	0.96[ASN][1000 genomes]
rs13016400	0.81[CEU][hapmap]
rs13016893	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13430086	0.89[CEU][hapmap];0.92[ASN][1000 genomes]
rs1895694	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];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2042555	0.80[EUR][1000 genomes]
rs2113792	0.96[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2113794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2194695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2603597	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2603600	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2627019	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2627025	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3768684	0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3768686	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3768688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3820716	0.89[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4419186	0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs55816333	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56073268	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6709182	0.96[CEU][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs6731371	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7566230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7582403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7593570	0.87[ASN][1000 genomes]
rs9287411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[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	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148613000-148640800	Weak transcription	Lung	lung
2	chr2:148616800-148636200	Weak transcription	Small Intestine	intestine
3	chr2:148620000-148634000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:148620600-148634200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:148620800-148640000	Weak transcription	Adipose Nuclei	Adipose
6	chr2:148621200-148633600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:148621400-148633200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:148621400-148637000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:148621600-148641600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:148623600-148642600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:148625600-148631800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:148625600-148634200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:148625600-148638200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:148625800-148634200	Weak transcription	HSMMtube	muscle
15	chr2:148625800-148638400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:148626000-148637000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:148626600-148639800	Weak transcription	Left Ventricle	heart
18	chr2:148627000-148631800	Weak transcription	HUVEC	blood vessel
19	chr2:148627200-148632800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:148627600-148633200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:148627800-148633000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:148628200-148633000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:148628200-148633600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:148628200-148633600	Weak transcription	Right Ventricle	heart
25	chr2:148628200-148634200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:148628200-148634200	Weak transcription	Psoas Muscle	Psoas
27	chr2:148628200-148636600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:148628200-148639800	Weak transcription	Right Atrium	heart
29	chr2:148628400-148633000	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:148628400-148633400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:148628400-148634400	Weak transcription	Brain Angular Gyrus	brain
32	chr2:148629400-148633000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:148631000-148631800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:148631000-148633200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:148631200-148631600	Enhancers	Fetal Intestine Large	intestine
36	chr2:148631200-148631800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:148631400-148631600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr2:148631400-148631800	Enhancers	Fetal Intestine Small	intestine
39	chr2:148631400-148631800	Enhancers	Stomach Mucosa	stomach
40	chr2:148631400-148632000	Enhancers	Liver	Liver
41	chr2:148631400-148632000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:148631400-148632200	Weak transcription	Duodenum Mucosa	Duodenum

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