Variant report

Variant	rs7511895
Chromosome Location	chr1:224306164-224306165
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224306088..224308328-chr1:224310619..224312209,2	MCF-7	breast:
2	chr1:224305830..224307987-chr1:224312983..224315689,3	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10753454	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10799478	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10799480	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10799505	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10916301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10916307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10916320	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10916355	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10916367	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10916371	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10916403	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10916415	0.89[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs11808787	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12038372	0.87[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.81[TSI][hapmap];0.82[ASN][1000 genomes]
rs12049583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070670	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12076788	0.81[ASN][1000 genomes]
rs12563153	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12730611	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13374070	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1492694	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16844819	0.89[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.84[ASN][1000 genomes]
rs17560970	0.80[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1826421	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2011117	0.81[CHB][hapmap]
rs2014782	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2048997	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2051105	0.83[ASN][1000 genomes]
rs2172361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280291	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2404843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2896985	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3820482	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3820483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4653563	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4653564	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4653568	0.81[CHB][hapmap]
rs4653972	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4653986	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4653991	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4653994	0.80[ASN][1000 genomes]
rs4654003	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs55664906	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55736782	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61827699	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6426139	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6426143	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6426169	0.86[ASN][1000 genomes]
rs6426178	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs66506223	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6657467	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6658494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6659234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6680651	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6681673	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs6682292	0.81[CHB][hapmap]
rs6682551	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6685405	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6685783	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6688818	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6690695	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6691405	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6698041	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6700284	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7518839	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7524705	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7526252	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7531891	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7542293	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7546235	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8328	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs869945	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs908795	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs908801	0.81[CHB][hapmap]
rs997296	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs997297	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873222	chr1:224292898-224335422	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7511895	RP11-365O16.3	cis	Skin Sun Exposed Lower leg	GTEx
rs7511895	FBXO28	cis	multi-tissue	Pritchard
rs7511895	KIAA0483	cis	multi-tissue	Pritchard

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224302800-224306200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:224302800-224308000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:224302800-224309200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:224302800-224309200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:224302800-224311600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:224302800-224311600	Weak transcription	Gastric	stomach
7	chr1:224302800-224318200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:224302800-224318200	Weak transcription	Left Ventricle	heart
9	chr1:224302800-224318200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:224302800-224318400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:224302800-224319600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:224302800-224319600	Weak transcription	Esophagus	oesophagus
13	chr1:224302800-224319600	Weak transcription	Lung	lung
14	chr1:224302800-224319600	Weak transcription	Small Intestine	intestine
15	chr1:224302800-224320200	Weak transcription	Pancreas	Pancrea
16	chr1:224302800-224327200	Weak transcription	Aorta	Aorta
17	chr1:224303000-224306400	Weak transcription	Fetal Thymus	thymus
18	chr1:224303000-224309800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:224303000-224315200	Weak transcription	Placenta	Placenta
20	chr1:224303000-224317800	Weak transcription	Ovary	ovary
21	chr1:224303000-224317800	Weak transcription	Thymus	Thymus
22	chr1:224303000-224318000	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:224303000-224318200	Weak transcription	Colonic Mucosa	Colon
24	chr1:224303000-224329000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:224303200-224306600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:224303200-224315400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:224303200-224317800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:224303200-224318000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:224303200-224318000	Weak transcription	HSMMtube	muscle
31	chr1:224303400-224307200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:224303600-224318000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:224303800-224306400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:224304000-224315400	Weak transcription	NHLF	lung
35	chr1:224304000-224319600	Weak transcription	Fetal Stomach	stomach
36	chr1:224304200-224309600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:224304200-224310000	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:224304200-224310400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:224304200-224315400	Weak transcription	NHDF-Ad	bronchial
40	chr1:224304200-224317800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:224304200-224318200	Weak transcription	Fetal Heart	heart
42	chr1:224304400-224306200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:224304400-224306200	Enhancers	Liver	Liver
44	chr1:224304400-224306200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:224304400-224306400	Weak transcription	A549	lung
46	chr1:224304400-224306600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:224304400-224307000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:224304400-224307200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:224304400-224307400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:224304400-224309800	Weak transcription	Brain Inferior Temporal Lobe	brain

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