Variant report

Variant	rs3108612
Chromosome Location	chr19:37137546-37137547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10414896	0.85[EUR][1000 genomes]
rs1234514	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1673087	0.87[ASW][hapmap]
rs17238977	0.85[CEU][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs2114287	0.92[EUR][1000 genomes]
rs2278168	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs2912401	0.80[TSI][hapmap]
rs2912402	0.80[TSI][hapmap]
rs2967470	0.82[TSI][hapmap]
rs3108176	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3108177	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3108204	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108207	0.82[TSI][hapmap]
rs3108210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3108216	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108217	0.83[ASN][1000 genomes]
rs3108556	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3108558	0.82[TSI][hapmap]
rs3108561	0.82[TSI][hapmap]
rs3108586	0.86[ASN][1000 genomes]
rs3170326	0.87[EUR][1000 genomes]
rs3745779	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3760826	0.91[EUR][1000 genomes]
rs56319939	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57854762	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61259689	0.87[EUR][1000 genomes]
rs61396420	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61732180	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62112474	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62112477	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62112481	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7254978	0.82[TSI][hapmap]
rs73034161	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7343133	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8111881	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs826984	0.86[ASN][1000 genomes]
rs826985	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers 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	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers 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	73 gene(s)	inside rSNPs	diseases
7	esv3492171	chr19:37122012-37190210	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
8	esv3492172	chr19:37122562-37190060	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
9	esv3492173	chr19:37122562-37190060	Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
10	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv3420176	chr19:37130161-37207917	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	nsv1061250	chr19:37134068-37188771	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
14	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37098000-37156000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:37106800-37151000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37106800-37156200	ZNF genes & repeats	Liver	Liver
4	chr19:37107000-37152400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:37110400-37152600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:37122600-37139800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
7	chr19:37124800-37155600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr19:37126200-37156200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:37127000-37140000	ZNF genes & repeats	Ovary	ovary
10	chr19:37127200-37141000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:37127200-37151000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:37128200-37150600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:37128600-37149600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
14	chr19:37128800-37156200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:37129600-37140400	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr19:37132000-37141000	ZNF genes & repeats	Fetal Stomach	stomach
17	chr19:37132200-37142200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr19:37132600-37140200	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr19:37132800-37139400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
20	chr19:37132800-37139800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:37132800-37141000	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr19:37132800-37142200	ZNF genes & repeats	Placenta	Placenta
23	chr19:37133000-37140200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:37133400-37140000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:37134400-37143400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:37134600-37157000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:37135200-37141000	ZNF genes & repeats	Left Ventricle	heart
28	chr19:37135200-37156200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr19:37135400-37140600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
30	chr19:37135400-37140600	ZNF genes & repeats	Lung	lung
31	chr19:37135400-37143000	ZNF genes & repeats	Fetal Lung	lung
32	chr19:37135400-37143600	ZNF genes & repeats	Fetal Intestine Large	intestine
33	chr19:37135600-37140200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
34	chr19:37135600-37140200	ZNF genes & repeats	Colon Smooth Muscle	Colon
35	chr19:37135600-37141000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
36	chr19:37135600-37143400	ZNF genes & repeats	Aorta	Aorta
37	chr19:37135600-37146600	ZNF genes & repeats	Brain Anterior Caudate	brain
38	chr19:37135600-37150000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:37135800-37140000	ZNF genes & repeats	Brain Substantia Nigra	brain
40	chr19:37135800-37140200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:37135800-37140200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
42	chr19:37135800-37140800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
43	chr19:37135800-37141000	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr19:37135800-37141000	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr19:37135800-37148000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
46	chr19:37135800-37150000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr19:37135800-37150800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:37135800-37156200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr19:37135800-37156400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr19:37136000-37138000	Strong transcription	Fetal Brain Male	brain

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