Variant report

Variant	rs8053632
Chromosome Location	chr16:75364940-75364941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75282958..75285617-chr16:75364609..75367497,2	MCF-7	breast:
2	chr16:75306196..75308145-chr16:75363526..75365550,2	MCF-7	breast:
3	chr16:75362018..75369381-chr16:75372474..75375997,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 151 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs1017239	0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10514393	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs10514396	0.83[JPT][hapmap]
rs1074961	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10781977	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10871307	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10871308	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10871309	0.80[ASN][1000 genomes]
rs1109342	0.83[JPT][hapmap]
rs11149812	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11149813	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs11149814	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11149815	0.88[JPT][hapmap]
rs11149816	0.94[ASN][1000 genomes]
rs11149831	0.83[JPT][hapmap]
rs11645691	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11646418	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12149063	0.83[JPT][hapmap]
rs12445188	0.94[ASN][1000 genomes]
rs12445211	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12445813	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12446903	0.95[ASN][1000 genomes]
rs12449177	0.92[ASN][1000 genomes]
rs12922897	0.85[ASN][1000 genomes]
rs12932952	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12935329	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364077	0.80[ASN][1000 genomes]
rs1364078	0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs1540	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1549306	0.83[JPT][hapmap]
rs17696696	0.83[JPT][hapmap]
rs185052	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1862705	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1862706	0.82[JPT][hapmap]
rs1895489	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1895490	0.83[JPT][hapmap]
rs2032926	0.94[ASN][1000 genomes]
rs2059256	0.83[JPT][hapmap]
rs2059257	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2242405	0.87[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs247423	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs247424	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs247425	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs247427	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs247431	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs247434	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs247436	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs247437	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs247438	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs247443	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs247447	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs247450	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2865527	0.91[ASN][1000 genomes]
rs2865530	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs2865531	0.82[JPT][hapmap]
rs2865532	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2903033	0.82[JPT][hapmap]
rs34222958	0.80[ASN][1000 genomes]
rs35263058	0.83[JPT][hapmap]
rs3743606	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs37588	0.85[EUR][1000 genomes]
rs37589	0.85[EUR][1000 genomes]
rs37602	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs3784936	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784937	0.94[ASN][1000 genomes]
rs3844219	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3851733	0.83[JPT][hapmap]
rs3851735	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3851736	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3851739	0.84[ASN][1000 genomes]
rs3863445	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs40217	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4146809	0.83[JPT][hapmap]
rs4146810	0.82[JPT][hapmap]
rs42472	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs4536500	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs455407	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4638613	0.83[JPT][hapmap]
rs467223	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs467780	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs468079	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4887812	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4887813	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4887814	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4887821	0.80[ASN][1000 genomes]
rs4887823	0.82[JPT][hapmap]
rs4887824	0.83[JPT][hapmap]
rs4887828	0.83[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4888369	0.80[EUR][1000 genomes]
rs4888370	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4888371	0.84[ASN][1000 genomes]
rs4888374	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888375	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888379	0.83[JPT][hapmap]
rs4888380	0.83[JPT][hapmap]
rs4888381	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4888383	0.83[JPT][hapmap]
rs4888386	0.83[JPT][hapmap]
rs4888387	0.82[JPT][hapmap]
rs4888388	0.83[JPT][hapmap]
rs4888389	0.83[JPT][hapmap]
rs4888393	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888394	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888395	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888396	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4888397	0.92[ASN][1000 genomes]
rs4888398	0.95[ASN][1000 genomes]
rs4888405	0.83[JPT][hapmap]
rs4888415	0.82[JPT][hapmap]
rs4888416	0.83[JPT][hapmap]
rs4993971	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62062595	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6564245	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6564249	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6564256	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7187263	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7187690	0.93[CEU][hapmap]
rs7188604	0.83[JPT][hapmap]
rs7189407	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7192155	0.94[ASN][1000 genomes]
rs7199132	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs7199680	0.90[ASN][1000 genomes]
rs7200616	0.82[ASN][1000 genomes]
rs7202083	0.81[EUR][1000 genomes]
rs7202284	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7203157	0.83[JPT][hapmap]
rs766521	0.83[JPT][hapmap]
rs766522	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8046109	0.83[JPT][hapmap]
rs8046184	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8046416	0.82[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap]
rs8046949	0.95[ASN][1000 genomes]
rs8047811	0.80[ASN][1000 genomes]
rs8048677	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8048816	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8049611	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8050059	0.83[JPT][hapmap]
rs8050662	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8051611	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8051785	0.94[ASN][1000 genomes]
rs8054586	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8055609	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs889446	0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs9933956	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9934007	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9989421	0.95[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	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
5	nsv833283	chr16:75302175-75392308	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8053632	CFDP1	Cis_1M	lymphoblastoid	RTeQTL
rs8053632	TMEM170A	cis	parietal	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75338800-75426400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:75339400-75411800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr16:75340400-75374800	Weak transcription	Aorta	Aorta
4	chr16:75340800-75373400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr16:75342200-75381200	Weak transcription	Esophagus	oesophagus
6	chr16:75344000-75376400	Weak transcription	Gastric	stomach
7	chr16:75347600-75366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:75348400-75374200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:75352000-75368000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr16:75352200-75376400	Weak transcription	Pancreas	Pancrea
11	chr16:75352200-75396000	Weak transcription	Lung	lung
12	chr16:75354600-75367800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:75354600-75373400	Weak transcription	Left Ventricle	heart
14	chr16:75354600-75375000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr16:75354800-75370800	Weak transcription	Brain Anterior Caudate	brain
16	chr16:75354800-75372400	Weak transcription	Fetal Lung	lung
17	chr16:75354800-75374800	Weak transcription	Liver	Liver
18	chr16:75354800-75413600	Weak transcription	Fetal Thymus	thymus
19	chr16:75355000-75368000	Weak transcription	Fetal Muscle Leg	muscle
20	chr16:75355000-75374600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:75355400-75375000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:75355400-75379800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:75355600-75367600	Weak transcription	HSMMtube	muscle
24	chr16:75357400-75367400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:75357400-75374400	Weak transcription	Osteobl	bone
26	chr16:75357400-75374800	Weak transcription	NHDF-Ad	bronchial
27	chr16:75358000-75374800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr16:75358200-75367400	Weak transcription	HUVEC	blood vessel
29	chr16:75358200-75368200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr16:75358200-75374400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:75358200-75374800	Weak transcription	NHLF	lung
32	chr16:75358400-75371000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:75358400-75371800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr16:75358400-75372000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr16:75358400-75373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:75358400-75374000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:75358400-75374600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:75358400-75374600	Weak transcription	NH-A	brain
39	chr16:75358400-75374600	Weak transcription	NHEK	skin
40	chr16:75358400-75374800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr16:75358400-75374800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:75358400-75421400	Weak transcription	K562	blood
43	chr16:75359400-75371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:75359400-75374800	Weak transcription	Psoas Muscle	Psoas
45	chr16:75359400-75376400	Weak transcription	Ovary	ovary
46	chr16:75359600-75373400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:75359600-75373600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr16:75359600-75374400	Weak transcription	HMEC	breast
49	chr16:75360000-75371800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:75360600-75367400	Weak transcription	Primary T cells fromperipheralblood	blood

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