Variant report

Variant	rs7202284
Chromosome Location	chr16:75374346-75374347
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75370846..75373377-chr16:75373417..75376185,2	MCF-7	breast:
2	chr16:75369418..75371050-chr16:75374074..75377008,2	MCF-7	breast:
3	chr16:75280709..75283499-chr16:75373078..75375460,2	MCF-7	breast:
4	chr16:75362018..75369381-chr16:75372474..75375997,7	MCF-7	breast:
5	chr16:75327825..75330128-chr16:75372649..75375270,2	MCF-7	breast:
6	chr16:75372586..75374670-chr16:75396434..75398139,2	K562	blood:

Variant related genes	Relation type
ENSG00000153774	Chromatin interaction
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs1017239	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10514393	0.87[JPT][hapmap]
rs10514396	0.83[JPT][hapmap]
rs1074961	0.95[AFR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10781977	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10871307	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10871308	0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1109342	0.83[JPT][hapmap]
rs11149812	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11149813	0.84[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs11149814	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11149815	0.89[JPT][hapmap]
rs11149816	0.94[ASN][1000 genomes]
rs11149831	0.84[JPT][hapmap]
rs11645691	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11646418	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12149063	0.84[JPT][hapmap]
rs12445188	0.94[ASN][1000 genomes]
rs12445211	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12445813	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12446903	0.92[ASN][1000 genomes]
rs12449177	0.89[ASN][1000 genomes]
rs12922897	0.82[ASN][1000 genomes]
rs12932952	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12935329	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1364078	0.85[JPT][hapmap]
rs1540	0.85[EUR][1000 genomes]
rs1549306	0.83[JPT][hapmap]
rs17696696	0.83[JPT][hapmap]
rs185052	1.00[CEU][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes]
rs1862705	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1862706	0.83[JPT][hapmap]
rs1895489	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1895490	0.83[JPT][hapmap]
rs2032926	0.97[ASN][1000 genomes]
rs2059256	0.84[JPT][hapmap]
rs2059257	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2242405	0.95[JPT][hapmap]
rs247423	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs247424	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs247425	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs247427	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs247431	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs247434	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs247436	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs247437	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs247438	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs247443	0.86[EUR][1000 genomes]
rs247447	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs247450	0.84[EUR][1000 genomes]
rs2865527	0.88[ASN][1000 genomes]
rs2865530	0.83[JPT][hapmap]
rs2865531	0.83[JPT][hapmap]
rs2865532	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2903033	0.83[JPT][hapmap]
rs35263058	0.83[JPT][hapmap]
rs3743606	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs37588	0.86[EUR][1000 genomes]
rs37589	0.86[EUR][1000 genomes]
rs37599	0.80[EUR][1000 genomes]
rs37602	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs3784936	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3784937	0.92[ASN][1000 genomes]
rs3844219	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3851733	0.83[JPT][hapmap]
rs3851735	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3851736	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3851739	0.85[ASN][1000 genomes]
rs3863445	0.83[JPT][hapmap]
rs40217	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4146809	0.83[JPT][hapmap]
rs4146810	0.83[JPT][hapmap]
rs42472	1.00[CEU][hapmap];0.81[JPT][hapmap];0.91[YRI][hapmap];0.86[EUR][1000 genomes]
rs4536500	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs455407	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4638613	0.83[JPT][hapmap]
rs467223	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs467780	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs468079	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4887812	0.81[EUR][1000 genomes]
rs4887813	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4887814	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4887823	0.83[JPT][hapmap]
rs4887824	0.83[JPT][hapmap]
rs4887828	0.95[JPT][hapmap]
rs4888369	0.81[EUR][1000 genomes]
rs4888370	0.81[EUR][1000 genomes]
rs4888374	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888375	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888379	0.84[JPT][hapmap]
rs4888380	0.83[JPT][hapmap]
rs4888381	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4888383	0.83[JPT][hapmap]
rs4888386	0.84[JPT][hapmap]
rs4888387	0.83[JPT][hapmap]
rs4888388	0.84[JPT][hapmap]
rs4888389	0.84[JPT][hapmap]
rs4888393	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[JPT][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888394	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888395	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888396	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4888397	0.90[ASN][1000 genomes]
rs4888398	0.92[ASN][1000 genomes]
rs4888405	0.84[JPT][hapmap]
rs4888415	0.83[JPT][hapmap]
rs4888416	0.83[JPT][hapmap]
rs4993971	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62062595	0.85[EUR][1000 genomes]
rs6564245	0.81[EUR][1000 genomes]
rs6564249	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6564256	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7187263	0.81[EUR][1000 genomes]
rs7187690	0.93[CEU][hapmap]
rs7188604	0.83[JPT][hapmap]
rs7189407	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7192155	0.94[ASN][1000 genomes]
rs7199132	0.82[JPT][hapmap]
rs7199680	0.92[ASN][1000 genomes]
rs7202083	0.82[EUR][1000 genomes]
rs7203157	0.83[JPT][hapmap]
rs766521	0.83[JPT][hapmap]
rs766522	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8046109	0.83[JPT][hapmap]
rs8046184	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8046416	0.95[JPT][hapmap]
rs8046949	0.92[ASN][1000 genomes]
rs8048677	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8048816	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8049611	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8050059	0.83[JPT][hapmap]
rs8050662	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8051611	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8051785	0.92[ASN][1000 genomes]
rs8053632	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8054586	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8055609	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs889446	0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs9933956	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9934007	0.81[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9989421	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	esv2762265	chr16:75368897-75415866	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7202284	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 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	chr16:75342200-75381200	Weak transcription	Esophagus	oesophagus
5	chr16:75344000-75376400	Weak transcription	Gastric	stomach
6	chr16:75352200-75376400	Weak transcription	Pancreas	Pancrea
7	chr16:75352200-75396000	Weak transcription	Lung	lung
8	chr16:75354600-75375000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr16:75354800-75374800	Weak transcription	Liver	Liver
10	chr16:75354800-75413600	Weak transcription	Fetal Thymus	thymus
11	chr16:75355000-75374600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:75355400-75375000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:75355400-75379800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:75357400-75374400	Weak transcription	Osteobl	bone
15	chr16:75357400-75374800	Weak transcription	NHDF-Ad	bronchial
16	chr16:75358000-75374800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr16:75358200-75374400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:75358200-75374800	Weak transcription	NHLF	lung
19	chr16:75358400-75374600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:75358400-75374600	Weak transcription	NH-A	brain
21	chr16:75358400-75374600	Weak transcription	NHEK	skin
22	chr16:75358400-75374800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr16:75358400-75374800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:75358400-75421400	Weak transcription	K562	blood
25	chr16:75359400-75374800	Weak transcription	Psoas Muscle	Psoas
26	chr16:75359400-75376400	Weak transcription	Ovary	ovary
27	chr16:75359600-75374400	Weak transcription	HMEC	breast
28	chr16:75360800-75374400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:75363600-75374600	Weak transcription	HSMM	muscle
30	chr16:75364000-75376400	Weak transcription	Right Ventricle	heart
31	chr16:75364400-75375200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr16:75364800-75375800	Weak transcription	Stomach Mucosa	stomach
33	chr16:75365200-75392400	Weak transcription	Brain Angular Gyrus	brain
34	chr16:75365600-75376200	Weak transcription	HepG2	liver
35	chr16:75366000-75374600	Weak transcription	Fetal Brain Female	brain
36	chr16:75368000-75374400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:75368000-75375400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr16:75368400-75374800	Weak transcription	Fetal Muscle Leg	muscle
39	chr16:75368400-75375000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:75368600-75376400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr16:75368600-75376800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr16:75368600-75379600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr16:75368600-75396600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr16:75368600-75411400	Weak transcription	GM12878-XiMat	blood
45	chr16:75368600-75412800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr16:75368800-75409800	Weak transcription	Thymus	Thymus
47	chr16:75368800-75413200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr16:75369200-75406000	Weak transcription	Dnd41	blood
49	chr16:75369400-75374400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:75370000-75374800	Weak transcription	Colon Smooth Muscle	Colon

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