Variant report

Variant	rs4141185
Chromosome Location	chr17:19812677-19812678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11204422	0.89[JPT][hapmap]
rs11867585	0.81[JPT][hapmap]
rs11870381	0.90[JPT][hapmap]
rs12451841	0.90[JPT][hapmap]
rs12942179	0.81[JPT][hapmap]
rs12947713	0.90[JPT][hapmap]
rs1638526	1.00[JPT][hapmap]
rs2072337	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28424266	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4319825	1.00[MKK][hapmap]
rs4925075	0.90[JPT][hapmap]
rs4925082	0.90[JPT][hapmap]
rs59294806	0.89[ASN][1000 genomes]
rs6587207	0.90[JPT][hapmap]
rs7207459	0.90[JPT][hapmap]
rs7209653	1.00[JPT][hapmap]
rs7215803	0.90[JPT][hapmap]
rs7224875	0.90[JPT][hapmap]
rs73303979	1.00[ASN][1000 genomes]
rs8065122	0.85[ASN][1000 genomes]
rs8068484	0.90[JPT][hapmap]
rs8075343	0.90[JPT][hapmap]
rs8080190	0.90[JPT][hapmap]
rs888424	0.90[JPT][hapmap]
rs9893296	0.90[ASN][1000 genomes]
rs9897653	0.81[JPT][hapmap]
rs9901294	1.00[JPT][hapmap]
rs9915039	0.90[JPT][hapmap]
rs9944451	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr17:19801400-19814200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:19801600-19814600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr17:19802200-19814200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr17:19802800-19824000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:19802800-19829000	Strong transcription	Fetal Muscle Leg	muscle
6	chr17:19802800-19844400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr17:19802800-19846400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:19802800-19852400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr17:19803000-19813200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr17:19803000-19822000	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr17:19803000-19824400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr17:19803000-19851800	Strong transcription	Fetal Thymus	thymus
13	chr17:19803200-19840800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:19803600-19813400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr17:19803600-19814000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr17:19803600-19826200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr17:19803600-19829800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:19803600-19845400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr17:19803600-19848000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:19803800-19818000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:19803800-19822400	Strong transcription	Primary T cells from cord blood	blood
22	chr17:19803800-19823400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr17:19803800-19824000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr17:19803800-19830800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr17:19804000-19823600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:19804000-19844400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr17:19804000-19853000	Strong transcription	Dnd41	blood
28	chr17:19805400-19814200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr17:19805600-19823800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr17:19805800-19824000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr17:19806200-19844000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr17:19806200-19844600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr17:19806400-19830200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr17:19806400-19846200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr17:19806600-19813200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr17:19806800-19813400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr17:19806800-19813600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr17:19806800-19813800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr17:19806800-19814000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr17:19806800-19814000	Strong transcription	Brain Substantia Nigra	brain
41	chr17:19806800-19814200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr17:19807000-19825800	Strong transcription	Placenta	Placenta
43	chr17:19807200-19823400	Strong transcription	Thymus	Thymus
44	chr17:19807800-19813200	Strong transcription	Brain Germinal Matrix	brain
45	chr17:19807800-19843800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr17:19808000-19823600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr17:19808200-19813000	Strong transcription	HSMMtube	muscle
48	chr17:19808200-19815000	Strong transcription	Left Ventricle	heart
49	chr17:19808200-19828400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr17:19808400-19813000	Strong transcription	Rectal Smooth Muscle	rectum

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