Variant report

Variant	rs55727944
Chromosome Location	chr16:74972999-74973000
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10514386	1.00[ASN][1000 genomes]
rs11863300	1.00[ASN][1000 genomes]
rs11864313	1.00[ASN][1000 genomes]
rs11864349	1.00[ASN][1000 genomes]
rs11866550	1.00[ASN][1000 genomes]
rs12444618	1.00[ASN][1000 genomes]
rs12445200	1.00[ASN][1000 genomes]
rs12446147	1.00[ASN][1000 genomes]
rs12447968	1.00[ASN][1000 genomes]
rs14308	1.00[ASN][1000 genomes]
rs28810133	1.00[ASN][1000 genomes]
rs4887788	1.00[ASN][1000 genomes]
rs4888307	1.00[ASN][1000 genomes]
rs55836977	1.00[ASN][1000 genomes]
rs55859029	1.00[ASN][1000 genomes]
rs56009261	1.00[ASN][1000 genomes]
rs56313952	1.00[ASN][1000 genomes]
rs62052860	1.00[ASN][1000 genomes]
rs62052861	1.00[ASN][1000 genomes]
rs7203228	1.00[ASN][1000 genomes]
rs72794783	1.00[ASN][1000 genomes]
rs72796668	1.00[ASN][1000 genomes]
rs72796671	1.00[ASN][1000 genomes]
rs72796672	1.00[ASN][1000 genomes]
rs72796678	1.00[ASN][1000 genomes]
rs72796696	1.00[ASN][1000 genomes]
rs72798603	1.00[ASN][1000 genomes]
rs72798608	1.00[ASN][1000 genomes]
rs72798613	1.00[ASN][1000 genomes]
rs72798621	1.00[ASN][1000 genomes]
rs72798647	1.00[ASN][1000 genomes]
rs72798648	1.00[ASN][1000 genomes]
rs72798683	1.00[ASN][1000 genomes]
rs72798700	1.00[ASN][1000 genomes]
rs74024565	1.00[ASN][1000 genomes]
rs8047659	1.00[ASN][1000 genomes]
rs8062012	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	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
9	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1059764	chr16:74868327-74989488	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1064546	chr16:74868795-74989488	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv526213	chr16:74873513-74990061	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv572978	chr16:74873574-74990004	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1063842	chr16:74896749-74990601	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv542959	chr16:74896749-74990601	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74906200-74993200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:74948400-74985800	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr16:74949000-74980800	Weak transcription	Hela-S3	cervix
4	chr16:74950200-74975600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr16:74950200-74975600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:74951000-74977600	Weak transcription	Fetal Brain Male	brain
7	chr16:74952600-74977600	Weak transcription	NHDF-Ad	bronchial
8	chr16:74956000-74975800	Weak transcription	K562	blood
9	chr16:74956200-74975600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:74956200-74988600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr16:74956400-74977000	Weak transcription	Psoas Muscle	Psoas
12	chr16:74956600-74981800	Weak transcription	Small Intestine	intestine
13	chr16:74957000-74991600	Weak transcription	Stomach Mucosa	stomach
14	chr16:74960800-74995200	Strong transcription	Fetal Intestine Small	intestine
15	chr16:74960800-74995200	Strong transcription	Fetal Stomach	stomach
16	chr16:74961400-74991600	Strong transcription	Liver	Liver
17	chr16:74962200-74973800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:74962200-74986200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:74962200-74993200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr16:74963200-74974200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:74963600-74974000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:74964000-74988600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr16:74966400-74986400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr16:74966600-74973800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr16:74967200-74975800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr16:74967200-74982000	Weak transcription	HUVEC	blood vessel
27	chr16:74967800-74977200	Weak transcription	Right Atrium	heart
28	chr16:74967800-74991000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr16:74968400-75000200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:74968800-74973200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr16:74968800-74973600	Strong transcription	Primary B cells from cord blood	blood
32	chr16:74968800-74986400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr16:74969600-74974000	Strong transcription	Left Ventricle	heart
34	chr16:74969600-74978400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr16:74969600-74981800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr16:74970000-74974000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:74970200-74991800	Strong transcription	Fetal Thymus	thymus
38	chr16:74970400-74974000	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr16:74970400-74974000	Strong transcription	Thymus	Thymus
40	chr16:74970400-74986000	Strong transcription	Primary T cells from cord blood	blood
41	chr16:74970800-74973600	Strong transcription	A549	lung
42	chr16:74970800-74973800	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr16:74970800-74974000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr16:74970800-74974200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr16:74970800-74974400	Strong transcription	Adipose Nuclei	Adipose
46	chr16:74970800-74979000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr16:74970800-74985800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr16:74970800-74986000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr16:74970800-74986200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr16:74970800-74986200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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