Variant report

Variant	rs1643422
Chromosome Location	chr19:37328646-37328647
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10408063	1.00[ASN][1000 genomes]
rs10410939	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10411150	0.90[ASN][1000 genomes]
rs10413876	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10414240	1.00[ASN][1000 genomes]
rs10418271	1.00[ASN][1000 genomes]
rs11880022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880088	1.00[EUR][1000 genomes]
rs11880159	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11882245	1.00[EUR][1000 genomes]
rs11882652	1.00[EUR][1000 genomes]
rs11882672	1.00[EUR][1000 genomes]
rs11883006	1.00[EUR][1000 genomes]
rs11883155	1.00[EUR][1000 genomes]
rs11883207	1.00[EUR][1000 genomes]
rs11883279	1.00[EUR][1000 genomes]
rs1227559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227561	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12459208	1.00[ASN][1000 genomes]
rs12459218	1.00[ASN][1000 genomes]
rs12459243	1.00[ASN][1000 genomes]
rs12459325	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12459377	0.90[ASN][1000 genomes]
rs12459429	1.00[ASN][1000 genomes]
rs12459527	1.00[ASN][1000 genomes]
rs12459808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12459894	0.90[ASN][1000 genomes]
rs12459915	1.00[ASN][1000 genomes]
rs12459923	1.00[ASN][1000 genomes]
rs12460049	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12460354	1.00[ASN][1000 genomes]
rs12460418	1.00[ASN][1000 genomes]
rs12460420	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12460430	1.00[ASN][1000 genomes]
rs12460455	1.00[ASN][1000 genomes]
rs12460482	1.00[ASN][1000 genomes]
rs12460729	1.00[ASN][1000 genomes]
rs12460774	1.00[ASN][1000 genomes]
rs12461023	1.00[ASN][1000 genomes]
rs12461264	1.00[ASN][1000 genomes]
rs12461265	1.00[ASN][1000 genomes]
rs12461280	1.00[ASN][1000 genomes]
rs12461436	1.00[ASN][1000 genomes]
rs12461474	1.00[ASN][1000 genomes]
rs12461721	1.00[ASN][1000 genomes]
rs12461738	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12461954	1.00[ASN][1000 genomes]
rs12462037	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12462268	1.00[ASN][1000 genomes]
rs12462281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12462325	1.00[ASN][1000 genomes]
rs12462454	1.00[ASN][1000 genomes]
rs12462471	0.90[ASN][1000 genomes]
rs12462635	1.00[ASN][1000 genomes]
rs12463012	0.90[ASN][1000 genomes]
rs12974130	1.00[ASN][1000 genomes]
rs12974446	1.00[ASN][1000 genomes]
rs1625762	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1673083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971568	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973489	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17468285	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1990964	0.90[ASN][1000 genomes]
rs2385414	1.00[EUR][1000 genomes]
rs2385565	1.00[EUR][1000 genomes]
rs25419	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25420	1.00[EUR][1000 genomes]
rs28398875	1.00[ASN][1000 genomes]
rs28465595	1.00[ASN][1000 genomes]
rs28472526	1.00[ASN][1000 genomes]
rs28645577	1.00[ASN][1000 genomes]
rs28742010	1.00[ASN][1000 genomes]
rs28818888	1.00[ASN][1000 genomes]
rs34051375	1.00[ASN][1000 genomes]
rs35621405	1.00[ASN][1000 genomes]
rs35706444	1.00[ASN][1000 genomes]
rs3859520	0.90[ASN][1000 genomes]
rs485256	1.00[EUR][1000 genomes]
rs491951	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs500244	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58245911	1.00[ASN][1000 genomes]
rs60268308	1.00[ASN][1000 genomes]
rs60615280	1.00[ASN][1000 genomes]
rs61750934	1.00[ASN][1000 genomes]
rs6510562	1.00[ASN][1000 genomes]
rs73609133	1.00[ASN][1000 genomes]
rs73612031	1.00[ASN][1000 genomes]
rs73612043	1.00[ASN][1000 genomes]
rs73615692	1.00[ASN][1000 genomes]
rs73615693	0.90[ASN][1000 genomes]
rs7508258	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104355	0.90[ASN][1000 genomes]
rs8107274	1.00[CHB][hapmap]
rs8111419	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
6	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
7	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv911650	chr19:37241141-37331614	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers 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	27 gene(s)	inside rSNPs	diseases
16	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
17	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
18	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription 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	25 gene(s)	inside rSNPs	diseases
19	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	esv3354270	chr19:37309161-37364929	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
22	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr19:37327600-37328800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:37327600-37328800	Flanking Active TSS	Liver	Liver
3	chr19:37327600-37328800	Flanking Active TSS	Dnd41	blood
4	chr19:37327600-37330000	Active TSS	Rectal Smooth Muscle	rectum
5	chr19:37327600-37330400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:37327800-37328800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr19:37327800-37328800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr19:37327800-37328800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr19:37327800-37329000	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr19:37327800-37330000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr19:37328000-37328800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:37328000-37328800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr19:37328000-37328800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:37328000-37328800	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr19:37328000-37328800	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr19:37328000-37329000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:37328000-37329000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr19:37328000-37329400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:37328000-37330000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr19:37328000-37330000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:37328000-37330200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr19:37328000-37330200	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr19:37328000-37330200	Active TSS	Fetal Intestine Large	intestine
24	chr19:37328000-37330200	ZNF genes & repeats	A549	lung
25	chr19:37328200-37328800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:37328200-37328800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:37328200-37328800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr19:37328200-37328800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr19:37328200-37328800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:37328200-37328800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:37328200-37328800	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr19:37328200-37328800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr19:37328200-37328800	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr19:37328200-37328800	Flanking Active TSS	Fetal Thymus	thymus
35	chr19:37328200-37328800	Flanking Active TSS	Thymus	Thymus
36	chr19:37328200-37328800	Enhancers	Spleen	Spleen
37	chr19:37328200-37328800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr19:37328200-37328800	Flanking Active TSS	Osteobl	bone
39	chr19:37328200-37329000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr19:37328200-37329000	Flanking Active TSS	HUVEC	blood vessel
41	chr19:37328200-37329400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:37328200-37329600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:37328200-37329600	Active TSS	HSMM	muscle
44	chr19:37328200-37329600	Active TSS	NH-A	brain
45	chr19:37328200-37329800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:37328200-37329800	Active TSS	NHDF-Ad	bronchial
47	chr19:37328200-37330000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr19:37328200-37330000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:37328200-37330000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:37328200-37330000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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