Variant report

Variant	rs3810385
Chromosome Location	chr19:40306704-40306705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40301084..40303367-chr19:40305267..40308051,2	K562	blood:
2	chr19:40306242..40311061-chr19:40311644..40314932,5	K562	blood:
3	chr19:40300536..40303367-chr19:40305267..40307931,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1003947	0.95[ASN][1000 genomes]
rs1003948	0.95[ASN][1000 genomes]
rs10048489	1.00[CHB][hapmap]
rs1017078	0.95[ASN][1000 genomes]
rs1017079	0.95[ASN][1000 genomes]
rs11083539	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12972005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12972396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12972914	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs12973182	0.95[ASN][1000 genomes]
rs12975231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12976359	0.95[ASN][1000 genomes]
rs12979465	0.87[ASN][1000 genomes]
rs12983225	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12984263	0.92[ASN][1000 genomes]
rs12984432	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12984824	0.95[ASN][1000 genomes]
rs12986238	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2110230	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs34308963	0.95[ASN][1000 genomes]
rs35390382	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35488251	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35853287	0.95[ASN][1000 genomes]
rs35876606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810384	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][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]
rs3944083	0.95[ASN][1000 genomes]
rs649908	0.94[TSI][hapmap]
rs6508910	0.95[ASN][1000 genomes]
rs6508911	0.95[ASN][1000 genomes]
rs7251090	1.00[ASN][1000 genomes]
rs7251118	1.00[ASN][1000 genomes]
rs7252906	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];1.00[ASN][1000 genomes]
rs7258581	0.95[ASN][1000 genomes]
rs7258788	0.95[ASN][1000 genomes]
rs7258881	0.95[ASN][1000 genomes]
rs8102224	0.92[ASN][1000 genomes]
rs8102444	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8111434	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057361	chr19:40123868-40310996	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1061361	chr19:40131820-40310996	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv579511	chr19:40132825-40310497	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1062394	chr19:40133229-40310186	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv544004	chr19:40133229-40310186	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40296200-40314200	Weak transcription	Right Ventricle	heart
2	chr19:40298800-40314200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:40299800-40313600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr19:40300200-40314200	Weak transcription	Gastric	stomach
5	chr19:40300600-40306800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:40300800-40313400	Weak transcription	Pancreas	Pancrea
7	chr19:40301400-40308800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr19:40301400-40309400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr19:40301600-40314200	Weak transcription	Ovary	ovary
10	chr19:40301600-40314400	Weak transcription	Primary B cells from cord blood	blood
11	chr19:40301600-40314400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr19:40302600-40306800	Weak transcription	Lung	lung
13	chr19:40302600-40314400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr19:40302800-40314200	Weak transcription	Brain Angular Gyrus	brain
15	chr19:40303000-40314200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:40303000-40314200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr19:40303200-40314200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr19:40303600-40306800	Weak transcription	Fetal Stomach	stomach
19	chr19:40303800-40306800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr19:40303800-40314200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr19:40304000-40306800	Weak transcription	Psoas Muscle	Psoas
22	chr19:40304000-40313400	Weak transcription	Brain Germinal Matrix	brain
23	chr19:40304000-40314200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:40304200-40308800	Weak transcription	Spleen	Spleen
25	chr19:40304400-40306800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr19:40304600-40306800	Weak transcription	Aorta	Aorta
27	chr19:40304600-40307000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr19:40304600-40308000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr19:40304600-40314200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:40304600-40314200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:40304600-40314200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:40304800-40306800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr19:40304800-40306800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:40304800-40306800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr19:40304800-40306800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr19:40305000-40306800	Weak transcription	Brain Substantia Nigra	brain
37	chr19:40305000-40307000	Weak transcription	Liver	Liver
38	chr19:40305000-40309000	Weak transcription	Esophagus	oesophagus
39	chr19:40305000-40314200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:40305200-40306800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:40305200-40314200	Weak transcription	Thymus	Thymus
42	chr19:40305200-40314200	Weak transcription	NHLF	lung
43	chr19:40305400-40307000	Weak transcription	Brain Anterior Caudate	brain
44	chr19:40305400-40308600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:40305400-40310000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:40305400-40310400	Strong transcription	Primary T cells from cord blood	blood
47	chr19:40305400-40314200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:40305400-40314200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:40305800-40314200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:40305800-40314400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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