Variant report

Variant	rs8100072
Chromosome Location	chr19:21107239-21107240
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10500214	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11085429	1.00[YRI][hapmap]
rs12052091	1.00[YRI][hapmap]
rs12151124	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12972502	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12973946	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12974516	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12976498	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12977377	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12978422	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12979034	0.83[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12980702	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12982799	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12984683	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12985632	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12985960	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs34083865	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34094278	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34147545	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34319995	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34333465	0.83[EUR][1000 genomes]
rs34353115	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34364519	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34408954	0.81[EUR][1000 genomes]
rs34428650	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34570925	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34589343	0.81[EUR][1000 genomes]
rs34624594	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34655445	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34810042	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35087386	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35142954	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35187472	0.81[EUR][1000 genomes]
rs35301331	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35355399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35356210	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35629911	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35646729	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35713135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35713726	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35739003	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35748394	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35775609	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35807371	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35816744	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35891780	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35908447	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35992021	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36066016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36116339	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3853666	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3853667	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4583391	0.81[EUR][1000 genomes]
rs66746089	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66886362	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66889224	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67084493	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67143565	0.81[EUR][1000 genomes]
rs67242454	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67493653	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68066643	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs68101689	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs68140009	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7254676	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73005097	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73007025	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73007030	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73007042	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs74182996	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74182998	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74182999	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74183002	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113635	0.88[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv2752729	chr19:20818886-21169554	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
3	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
4	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1063954	chr19:21000562-21177577	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv578946	chr19:21014403-21151796	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
8	nsv960809	chr19:21031718-21121801	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1055738	chr19:21040181-21109969	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv522090	chr19:21041350-21109784	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv578947	chr19:21041350-21109784	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv1062802	chr19:21053665-21109969	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1067455	chr19:21053665-21141787	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
15	nsv1058430	chr19:21063759-21114796	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21105600-21107400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr19:21105600-21107400	Active TSS	Stomach Smooth Muscle	stomach
3	chr19:21105600-21107400	Active TSS	HUVEC	blood vessel
4	chr19:21105600-21108000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr19:21105800-21107400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr19:21105800-21107400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:21105800-21107400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr19:21105800-21107400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr19:21105800-21107400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:21105800-21107400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:21105800-21107400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:21105800-21107400	Active TSS	Fetal Kidney	kidney
13	chr19:21105800-21107400	Active TSS	Ovary	ovary
14	chr19:21105800-21107400	Active TSS	HSMMtube	muscle
15	chr19:21105800-21107400	Active TSS	NH-A	brain
16	chr19:21105800-21107400	Active TSS	NHLF	lung
17	chr19:21105800-21107600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:21105800-21107800	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr19:21106000-21107400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr19:21106000-21107400	Active TSS	HMEC	breast
21	chr19:21106000-21107400	Active TSS	NHDF-Ad	bronchial
22	chr19:21106000-21108000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:21106400-21107600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:21106600-21107400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr19:21106600-21117800	Weak transcription	Small Intestine	intestine
26	chr19:21106600-21119200	Weak transcription	Spleen	Spleen
27	chr19:21106600-21129800	Weak transcription	Stomach Mucosa	stomach
28	chr19:21106800-21107400	Enhancers	Fetal Brain Male	brain
29	chr19:21106800-21119200	Weak transcription	Aorta	Aorta
30	chr19:21106800-21125600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr19:21106800-21128200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:21106800-21131000	Weak transcription	Gastric	stomach
33	chr19:21107000-21107400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:21107000-21107400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr19:21107000-21107400	Enhancers	Primary B cells from peripheral blood	blood
36	chr19:21107000-21107400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr19:21107000-21107400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr19:21107000-21107400	Enhancers	Brain Cingulate Gyrus	brain
39	chr19:21107000-21107400	Enhancers	Brain Substantia Nigra	brain
40	chr19:21107000-21107400	Enhancers	Fetal Heart	heart
41	chr19:21107000-21107400	ZNF genes & repeats	GM12878-XiMat	blood
42	chr19:21107000-21107600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr19:21107000-21107600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr19:21107000-21107600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:21107000-21107600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:21107000-21107600	Flanking Active TSS	Osteobl	bone
47	chr19:21107000-21107800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr19:21107000-21107800	Weak transcription	Fetal Thymus	thymus
49	chr19:21107000-21107800	Flanking Active TSS	Dnd41	blood
50	chr19:21107000-21108000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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