Variant report

Variant	rs11646418
Chromosome Location	chr16:75367585-75367586
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75352995..75355512-chr16:75367418..75369900,2	K562	blood:
2	chr16:75285841..75288097-chr16:75366002..75368998,2	MCF-7	breast:
3	chr16:75362018..75369381-chr16:75372474..75375997,7	MCF-7	breast:
4	chr16:75365106..75367666-chr16:75382287..75385096,2	MCF-7	breast:
5	chr16:75343980..75345503-chr16:75366651..75368518,2	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1017239	0.99[ASN][1000 genomes]
rs1074961	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10781977	0.91[ASN][1000 genomes]
rs10871307	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10871308	0.94[ASN][1000 genomes]
rs11149812	1.00[CEU][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11149813	0.91[ASN][1000 genomes]
rs11149814	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11149816	0.96[ASN][1000 genomes]
rs11645691	0.93[ASN][1000 genomes]
rs12445188	0.96[ASN][1000 genomes]
rs12445211	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12445813	0.96[ASN][1000 genomes]
rs12446903	0.94[ASN][1000 genomes]
rs12449177	0.91[ASN][1000 genomes]
rs12922897	0.84[ASN][1000 genomes]
rs12922951	0.81[ASN][1000 genomes]
rs12932952	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12935329	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1540	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs185052	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1862705	0.96[ASN][1000 genomes]
rs1895489	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2032926	0.99[ASN][1000 genomes]
rs2059257	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2242405	0.81[ASN][1000 genomes]
rs247423	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs247424	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs247425	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs247427	1.00[CEU][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs247431	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs247434	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs247436	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs247437	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs247438	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs247443	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs247447	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs247450	0.82[EUR][1000 genomes]
rs2865527	0.90[ASN][1000 genomes]
rs2865532	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3743606	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs37588	0.84[EUR][1000 genomes]
rs37589	0.84[EUR][1000 genomes]
rs37602	1.00[CEU][hapmap]
rs3784936	1.00[CEU][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784937	0.94[ASN][1000 genomes]
rs3844219	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3851735	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3851736	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3851739	0.85[ASN][1000 genomes]
rs3863442	0.81[ASN][1000 genomes]
rs40217	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs42472	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4536500	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs455407	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs467223	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs467780	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs468079	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4887812	0.81[ASN][1000 genomes]
rs4887813	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4887814	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4887818	0.82[ASN][1000 genomes]
rs4887828	0.80[ASN][1000 genomes]
rs4888370	0.81[ASN][1000 genomes]
rs4888371	0.81[ASN][1000 genomes]
rs4888374	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888375	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888381	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888393	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4888394	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4888395	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4888396	0.94[ASN][1000 genomes]
rs4888397	0.92[ASN][1000 genomes]
rs4888398	0.94[ASN][1000 genomes]
rs4993971	1.00[CEU][hapmap];0.81[YRI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62062595	0.81[EUR][1000 genomes]
rs6564245	0.81[ASN][1000 genomes]
rs6564249	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6564256	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7187263	0.81[ASN][1000 genomes]
rs7187690	0.92[CEU][hapmap]
rs7189407	0.86[ASN][1000 genomes]
rs7192155	0.94[ASN][1000 genomes]
rs7194129	0.81[ASN][1000 genomes]
rs7199680	0.94[ASN][1000 genomes]
rs7202284	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs766522	0.94[ASN][1000 genomes]
rs8046109	0.80[ASN][1000 genomes]
rs8046184	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8046949	0.94[ASN][1000 genomes]
rs8048677	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8048816	0.94[ASN][1000 genomes]
rs8049611	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8050662	1.00[CEU][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8051611	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8051785	0.94[ASN][1000 genomes]
rs8053632	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8054586	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8055609	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs889446	0.94[ASN][1000 genomes]
rs9933956	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934007	0.96[ASN][1000 genomes]
rs9989421	0.94[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11646418	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 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	chr16:75348400-75374200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr16:75352000-75368000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:75352200-75376400	Weak transcription	Pancreas	Pancrea
10	chr16:75352200-75396000	Weak transcription	Lung	lung
11	chr16:75354600-75367800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:75354600-75373400	Weak transcription	Left Ventricle	heart
13	chr16:75354600-75375000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr16:75354800-75370800	Weak transcription	Brain Anterior Caudate	brain
15	chr16:75354800-75372400	Weak transcription	Fetal Lung	lung
16	chr16:75354800-75374800	Weak transcription	Liver	Liver
17	chr16:75354800-75413600	Weak transcription	Fetal Thymus	thymus
18	chr16:75355000-75368000	Weak transcription	Fetal Muscle Leg	muscle
19	chr16:75355000-75374600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:75355400-75375000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr16:75355400-75379800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:75355600-75367600	Weak transcription	HSMMtube	muscle
23	chr16:75357400-75374400	Weak transcription	Osteobl	bone
24	chr16:75357400-75374800	Weak transcription	NHDF-Ad	bronchial
25	chr16:75358000-75374800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr16:75358200-75368200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr16:75358200-75374400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:75358200-75374800	Weak transcription	NHLF	lung
29	chr16:75358400-75371000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:75358400-75371800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr16:75358400-75372000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr16:75358400-75373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:75358400-75374000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:75358400-75374600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:75358400-75374600	Weak transcription	NH-A	brain
36	chr16:75358400-75374600	Weak transcription	NHEK	skin
37	chr16:75358400-75374800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr16:75358400-75374800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:75358400-75421400	Weak transcription	K562	blood
40	chr16:75359400-75371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:75359400-75374800	Weak transcription	Psoas Muscle	Psoas
42	chr16:75359400-75376400	Weak transcription	Ovary	ovary
43	chr16:75359600-75373400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:75359600-75373600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr16:75359600-75374400	Weak transcription	HMEC	breast
46	chr16:75360000-75371800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:75360600-75372200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:75360600-75373600	Weak transcription	Brain Germinal Matrix	brain
49	chr16:75360800-75374400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr16:75362000-75370800	Weak transcription	Fetal Stomach	stomach

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