Variant report

Variant	rs16940444
Chromosome Location	chr16:75629008-75629009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75609885..75612735-chr16:75628423..75630000,2	K562	blood:
2	chr16:75628689..75631132-chr16:75648256..75650154,2	K562	blood:
3	chr16:75599124..75600633-chr16:75627210..75629703,2	K562	blood:
4	chr16:75588547..75590728-chr16:75626355..75629184,4	K562	blood:
5	chr16:75627208..75629939-chr16:75629940..75634197,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000034713	Chromatin interaction
ENSG00000205084	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11556641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12922861	1.00[CEU][hapmap]
rs16940260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16940348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16940362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16940961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16942032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16975847	1.00[CHB][hapmap]
rs2164246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2550320	1.00[AMR][1000 genomes]
rs2550889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2550892	1.00[JPT][hapmap]
rs2550893	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2550897	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550900	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550902	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2550903	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550905	0.80[EUR][1000 genomes]
rs2550906	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550907	0.86[EUR][1000 genomes]
rs2550914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2550915	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2641803	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2641807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2650406	0.86[EUR][1000 genomes]
rs2650410	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650411	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650413	1.00[JPT][hapmap]
rs2738800	1.00[AMR][1000 genomes]
rs55714466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55862257	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56030666	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56321575	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60919196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7194333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72563121	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73610805	0.86[EUR][1000 genomes]
rs74024796	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027409	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74027420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74027439	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027441	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027443	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8192515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs920037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[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	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
2	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
3	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75607600-75630800	Weak transcription	Fetal Brain Male	brain
2	chr16:75610400-75634000	Weak transcription	Hela-S3	cervix
3	chr16:75610600-75633400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr16:75610600-75635200	Weak transcription	Fetal Kidney	kidney
5	chr16:75611400-75634000	Weak transcription	Colonic Mucosa	Colon
6	chr16:75612000-75631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:75612000-75635600	Weak transcription	Small Intestine	intestine
8	chr16:75612400-75631000	Weak transcription	Gastric	stomach
9	chr16:75612400-75631200	Weak transcription	Esophagus	oesophagus
10	chr16:75613200-75633400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr16:75613400-75630800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:75613400-75635200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr16:75613600-75630800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr16:75613600-75631000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr16:75613600-75633000	Weak transcription	Ovary	ovary
16	chr16:75613800-75630800	Weak transcription	HMEC	breast
17	chr16:75613800-75632800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr16:75614000-75629800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr16:75614400-75630600	Weak transcription	Thymus	Thymus
20	chr16:75614400-75630800	Weak transcription	Liver	Liver
21	chr16:75614400-75630800	Weak transcription	Fetal Brain Female	brain
22	chr16:75614400-75631000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr16:75614400-75631000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr16:75615000-75633400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr16:75615400-75631000	Weak transcription	Fetal Thymus	thymus
26	chr16:75619000-75630600	Weak transcription	Primary B cells from cord blood	blood
27	chr16:75619600-75630800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr16:75621000-75631000	Weak transcription	Pancreas	Pancrea
29	chr16:75621000-75631000	Weak transcription	Spleen	Spleen
30	chr16:75621200-75631000	Weak transcription	Brain Angular Gyrus	brain
31	chr16:75622000-75630800	Weak transcription	Placenta	Placenta
32	chr16:75623400-75630800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:75623600-75631000	Weak transcription	Lung	lung
34	chr16:75625200-75631200	Weak transcription	Aorta	Aorta
35	chr16:75625400-75630000	Weak transcription	Fetal Intestine Small	intestine
36	chr16:75625400-75631000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr16:75625400-75631200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr16:75625400-75635400	Weak transcription	Brain Substantia Nigra	brain
39	chr16:75625600-75630800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr16:75625600-75630800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr16:75625600-75631200	Weak transcription	Brain Anterior Caudate	brain
42	chr16:75625600-75633400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr16:75625600-75648000	Weak transcription	Fetal Heart	heart
44	chr16:75626200-75631000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:75626400-75631000	Weak transcription	Fetal Lung	lung
46	chr16:75626600-75633400	Weak transcription	Colon Smooth Muscle	Colon
47	chr16:75626800-75630800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr16:75626800-75633200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr16:75627200-75629400	Enhancers	Primary hematopoietic stem cells	blood
50	chr16:75627400-75629400	Enhancers	Cortex derived primary cultured neurospheres	brain

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