Variant report

Variant	rs11645691
Chromosome Location	chr16:75409235-75409236
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75407845..75411677-chr16:75412176..75415638,4	K562	blood:
2	chr16:75381200..75384064-chr16:75408977..75410477,2	K562	blood:

Variant related genes	Relation type
ENSG00000261783	Chromatin interaction

Extended variants
information (count: 205 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:196)

rs_ID	r²[population]
rs1011121	0.83[CHB][hapmap]
rs1017239	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10431974	0.81[ASN][1000 genomes]
rs10514393	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs10514396	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs1074961	0.96[ASN][1000 genomes]
rs10781976	0.83[CHB][hapmap]
rs10781977	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10871307	0.88[ASN][1000 genomes]
rs10871308	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1109341	0.81[ASN][1000 genomes]
rs1109342	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs11149812	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs11149813	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11149814	0.87[ASN][1000 genomes]
rs11149815	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs11149816	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11149818	0.81[ASN][1000 genomes]
rs11149820	0.81[ASN][1000 genomes]
rs11149824	0.81[ASN][1000 genomes]
rs11149825	0.81[ASN][1000 genomes]
rs11149829	0.81[ASN][1000 genomes]
rs11149831	0.83[CHB][hapmap]
rs11640018	0.83[CHB][hapmap]
rs11641532	0.83[CHB][hapmap]
rs11643410	0.81[ASN][1000 genomes]
rs11646418	0.93[ASN][1000 genomes]
rs11646677	0.83[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs11858992	0.82[ASN][1000 genomes]
rs11860284	0.82[ASN][1000 genomes]
rs11862582	0.80[ASN][1000 genomes]
rs11864102	0.80[ASN][1000 genomes]
rs12051136	0.81[ASN][1000 genomes]
rs12051326	0.81[ASN][1000 genomes]
rs12149063	0.83[CHB][hapmap]
rs12443834	0.81[ASN][1000 genomes]
rs12443904	0.81[ASN][1000 genomes]
rs12444589	0.83[CHB][hapmap]
rs12445188	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12445211	0.90[ASN][1000 genomes]
rs12445813	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12446903	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12449177	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12599361	0.81[ASN][1000 genomes]
rs12922897	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12932952	0.94[ASN][1000 genomes]
rs12933281	0.82[CHB][hapmap]
rs12935329	0.94[ASN][1000 genomes]
rs1364078	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs1540	0.82[ASN][1000 genomes]
rs1544810	0.82[ASN][1000 genomes]
rs1549306	0.83[CHB][hapmap]
rs1559339	0.83[CHB][hapmap]
rs17696696	0.83[CHB][hapmap]
rs17696749	0.83[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs185052	0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1862705	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1895489	0.85[ASN][1000 genomes]
rs1895490	0.83[CHB][hapmap]
rs2032926	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2059256	0.82[CHB][hapmap]
rs2059257	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs2161648	0.83[CHB][hapmap]
rs2161684	0.82[CHB][hapmap]
rs2242405	0.81[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2285222	0.80[ASN][1000 genomes]
rs2285225	0.80[ASN][1000 genomes]
rs247423	0.94[ASN][1000 genomes]
rs247424	0.93[ASN][1000 genomes]
rs247425	0.94[ASN][1000 genomes]
rs247427	1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs247431	0.99[ASN][1000 genomes]
rs247434	0.98[ASN][1000 genomes]
rs247436	0.99[ASN][1000 genomes]
rs247437	0.96[ASN][1000 genomes]
rs247438	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs247439	0.84[ASN][1000 genomes]
rs247443	0.83[ASN][1000 genomes]
rs247450	0.81[ASN][1000 genomes]
rs2865527	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2865530	0.83[CHB][hapmap]
rs2865532	0.88[ASN][1000 genomes]
rs2903033	0.83[CHB][hapmap]
rs34296964	0.80[ASN][1000 genomes]
rs35415181	0.81[ASN][1000 genomes]
rs35552529	0.82[ASN][1000 genomes]
rs35737321	0.81[ASN][1000 genomes]
rs3743606	0.84[ASN][1000 genomes]
rs37588	0.81[ASN][1000 genomes]
rs37589	0.81[ASN][1000 genomes]
rs37602	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs3784936	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs3784937	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3844219	0.92[ASN][1000 genomes]
rs3851735	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3851736	0.96[ASN][1000 genomes]
rs3851739	0.85[ASN][1000 genomes]
rs40217	0.84[ASN][1000 genomes]
rs4146809	0.83[CHB][hapmap]
rs4146810	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs4243111	0.83[CHB][hapmap]
rs42472	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs4536500	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs455407	0.99[ASN][1000 genomes]
rs4638613	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs467223	0.98[ASN][1000 genomes]
rs467780	0.98[ASN][1000 genomes]
rs468079	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4887813	0.85[ASN][1000 genomes]
rs4887814	0.87[ASN][1000 genomes]
rs4887823	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs4887824	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs4887828	0.86[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4888374	0.86[ASN][1000 genomes]
rs4888375	0.86[ASN][1000 genomes]
rs4888376	0.83[CHB][hapmap]
rs4888377	0.84[CHB][hapmap]
rs4888378	0.83[CHB][hapmap]
rs4888379	0.83[CHB][hapmap]
rs4888380	0.82[CHB][hapmap]
rs4888381	0.93[ASN][1000 genomes]
rs4888383	0.83[CHB][hapmap]
rs4888388	0.83[CHB][hapmap]
rs4888390	0.81[ASN][1000 genomes]
rs4888391	0.81[ASN][1000 genomes]
rs4888392	0.81[ASN][1000 genomes]
rs4888393	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4888394	1.00[ASN][1000 genomes]
rs4888395	1.00[ASN][1000 genomes]
rs4888396	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4888397	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4888398	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4888403	0.81[ASN][1000 genomes]
rs4888404	0.81[ASN][1000 genomes]
rs4888405	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs4888406	0.81[ASN][1000 genomes]
rs4888407	0.81[ASN][1000 genomes]
rs4888409	0.81[ASN][1000 genomes]
rs4888410	0.81[ASN][1000 genomes]
rs4888416	0.83[CHB][hapmap]
rs4888425	0.82[CHB][hapmap]
rs4888430	0.86[CHB][hapmap]
rs4993969	0.83[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4993970	0.82[ASN][1000 genomes]
rs4993971	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56343285	0.82[ASN][1000 genomes]
rs60730309	0.81[ASN][1000 genomes]
rs62062565	0.80[ASN][1000 genomes]
rs62062568	0.80[ASN][1000 genomes]
rs62062595	0.82[ASN][1000 genomes]
rs6564249	0.92[ASN][1000 genomes]
rs6564256	0.92[ASN][1000 genomes]
rs71394207	0.80[ASN][1000 genomes]
rs7184525	0.81[ASN][1000 genomes]
rs7188231	0.81[ASN][1000 genomes]
rs7188604	0.83[CHB][hapmap]
rs7189407	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7192155	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7199132	0.83[CHB][hapmap]
rs7199680	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7201989	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7202284	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7203157	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs7204984	0.82[CHB][hapmap]
rs7206541	0.80[ASN][1000 genomes]
rs72787160	0.81[ASN][1000 genomes]
rs7499872	0.81[ASN][1000 genomes]
rs766521	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs766522	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8046000	0.80[ASN][1000 genomes]
rs8046109	0.82[CHB][hapmap]
rs8046184	1.00[ASN][1000 genomes]
rs8046416	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8046949	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8048527	0.81[ASN][1000 genomes]
rs8048677	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs8048816	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8049611	1.00[ASN][1000 genomes]
rs8050059	0.83[CHB][hapmap]
rs8050662	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs8051407	0.81[ASN][1000 genomes]
rs8051611	0.96[ASN][1000 genomes]
rs8051785	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8053632	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs8054586	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8054769	0.81[ASN][1000 genomes]
rs8055609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8056080	0.82[ASN][1000 genomes]
rs8056236	0.81[ASN][1000 genomes]
rs8057203	0.82[ASN][1000 genomes]
rs8057849	0.81[ASN][1000 genomes]
rs889446	0.95[CEU][hapmap];0.87[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9922008	0.85[CHB][hapmap]
rs9933956	0.93[ASN][1000 genomes]
rs9934007	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9989421	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	esv2422358	chr16:75381762-75456763	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
8	nsv525232	chr16:75402361-75439132	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv525466	chr16:75402361-75439132	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11645691	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

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	chr16:75354800-75413600	Weak transcription	Fetal Thymus	thymus
4	chr16:75358400-75421400	Weak transcription	K562	blood
5	chr16:75368600-75411400	Weak transcription	GM12878-XiMat	blood
6	chr16:75368600-75412800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr16:75368800-75409800	Weak transcription	Thymus	Thymus
8	chr16:75368800-75413200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr16:75376600-75410600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr16:75376600-75426800	Weak transcription	Brain Germinal Matrix	brain
11	chr16:75377000-75411600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr16:75377000-75411800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr16:75377000-75424400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr16:75377000-75426400	Weak transcription	Gastric	stomach
15	chr16:75377200-75424000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr16:75377400-75426400	Weak transcription	Pancreas	Pancrea
17	chr16:75377600-75410200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr16:75377600-75411800	Weak transcription	Left Ventricle	heart
19	chr16:75378000-75410200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr16:75378000-75411000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr16:75378400-75410400	Weak transcription	Fetal Kidney	kidney
22	chr16:75378600-75409600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:75380200-75411400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr16:75380200-75413200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr16:75381400-75409400	Weak transcription	Placenta	Placenta
26	chr16:75385800-75409600	Weak transcription	NHEK	skin
27	chr16:75388400-75409800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:75390600-75410800	Weak transcription	Small Intestine	intestine
29	chr16:75391800-75411800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr16:75392200-75411400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr16:75392400-75422000	Weak transcription	Aorta	Aorta
32	chr16:75393600-75410800	Weak transcription	Brain Hippocampus Middle	brain
33	chr16:75395600-75412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr16:75396200-75421200	Weak transcription	Lung	lung
35	chr16:75396400-75411600	Weak transcription	Adipose Nuclei	Adipose
36	chr16:75397000-75409800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr16:75397400-75413200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr16:75397800-75411600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr16:75399200-75411200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr16:75399600-75410800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr16:75399600-75410800	Weak transcription	Ovary	ovary
42	chr16:75399600-75426800	Weak transcription	Esophagus	oesophagus
43	chr16:75399800-75409800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr16:75399800-75411200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:75400400-75410200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr16:75400400-75410400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr16:75400600-75409600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr16:75400800-75409600	Weak transcription	Primary T cells from cord blood	blood
49	chr16:75401000-75409400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:75402000-75410200	Weak transcription	Fetal Intestine Large	intestine

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