Variant report

Variant	rs4808194
Chromosome Location	chr19:19435680-19435681
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19429265..19433955-chr19:19435114..19441517,10	K562	blood:
2	chr19:19435098..19437223-chr19:19438323..19441440,3	K562	blood:

Variant related genes	Relation type
ENSG00000129933	Chromatin interaction
ENSG00000105705	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1009136	0.91[ASN][1000 genomes]
rs1010207	0.91[ASN][1000 genomes]
rs10401193	0.93[CEU][hapmap]
rs10401969	0.82[AFR][1000 genomes]
rs10402661	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10403731	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10407952	0.90[ASN][1000 genomes]
rs10409234	0.88[ASN][1000 genomes]
rs10418051	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10419245	0.87[ASN][1000 genomes]
rs10419672	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10421505	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10426780	0.85[ASN][1000 genomes]
rs11085259	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11085261	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11666553	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11668104	0.85[AFR][1000 genomes]
rs12459676	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12460764	0.92[ASN][1000 genomes]
rs12972397	1.00[CEU][hapmap]
rs12973258	0.88[CEU][hapmap]
rs12976025	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12977524	1.00[CEU][hapmap]
rs12977937	0.88[ASN][1000 genomes]
rs12979148	0.88[AFR][1000 genomes]
rs12981974	0.83[EUR][1000 genomes]
rs12982276	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12983137	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12985655	0.86[ASN][1000 genomes]
rs13964	0.85[ASN][1000 genomes]
rs15622	0.85[ASN][1000 genomes]
rs1859287	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2017964	0.87[ASN][1000 genomes]
rs2023882	0.90[ASN][1000 genomes]
rs2023883	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074089	0.93[ASN][1000 genomes]
rs2074090	0.86[ASN][1000 genomes]
rs2074091	0.86[ASN][1000 genomes]
rs2074296	0.84[ASN][1000 genomes]
rs2074298	0.85[ASN][1000 genomes]
rs2074299	0.87[ASN][1000 genomes]
rs2074300	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2074301	0.93[CEU][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074303	0.87[ASN][1000 genomes]
rs2074550	0.87[ASN][1000 genomes]
rs2074551	0.82[ASN][1000 genomes]
rs2163804	0.93[CEU][hapmap]
rs2240117	0.85[AFR][1000 genomes]
rs2269873	0.89[ASN][1000 genomes]
rs2285627	0.94[ASN][1000 genomes]
rs2285628	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285859	0.91[ASN][1000 genomes]
rs2301668	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301669	0.86[ASN][1000 genomes]
rs2301671	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301784	0.87[ASN][1000 genomes]
rs2301786	0.90[ASN][1000 genomes]
rs2315022	0.90[ASN][1000 genomes]
rs2315025	0.90[ASN][1000 genomes]
rs2905423	0.85[ASN][1000 genomes]
rs2965191	0.86[ASN][1000 genomes]
rs2965193	0.86[ASN][1000 genomes]
rs4808193	0.85[ASN][1000 genomes]
rs4808196	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4808199	1.00[CEU][hapmap]
rs4808937	0.90[ASN][1000 genomes]
rs4808938	0.90[ASN][1000 genomes]
rs4808939	0.95[ASN][1000 genomes]
rs4808940	0.87[ASN][1000 genomes]
rs4808941	0.86[ASN][1000 genomes]
rs4808942	0.92[ASN][1000 genomes]
rs4808960	0.94[CEU][hapmap]
rs62135552	0.91[ASN][1000 genomes]
rs6511026	0.87[ASN][1000 genomes]
rs6511028	0.90[ASN][1000 genomes]
rs6511032	0.84[ASN][1000 genomes]
rs6511036	0.94[CEU][hapmap]
rs67720221	0.97[ASN][1000 genomes]
rs7246748	0.90[ASN][1000 genomes]
rs7247309	0.91[ASN][1000 genomes]
rs7250368	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7252888	0.93[CEU][hapmap]
rs7254230	0.92[ASN][1000 genomes]
rs7254748	0.88[ASN][1000 genomes]
rs7254927	0.90[ASN][1000 genomes]
rs7258508	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7259434	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs735273	0.85[ASN][1000 genomes]
rs739846	0.82[AFR][1000 genomes]
rs757000	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs757001	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs769267	0.86[ASN][1000 genomes]
rs8101938	0.87[ASN][1000 genomes]
rs8103197	0.86[ASN][1000 genomes]
rs8103496	0.87[ASN][1000 genomes]
rs8105094	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8105984	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8108647	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9304960	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs968525	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4808194	KIAA0892	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19432600-19445400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:19432800-19436800	Weak transcription	Small Intestine	intestine
3	chr19:19432800-19438400	Weak transcription	A549	lung
4	chr19:19432800-19445400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:19432800-19447400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:19433200-19439000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
7	chr19:19433200-19452800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:19433400-19436000	Genic enhancers	Fetal Muscle Leg	muscle
9	chr19:19433400-19440200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:19433400-19469800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:19433400-19470600	Strong transcription	Fetal Stomach	stomach
12	chr19:19433600-19448800	Weak transcription	Stomach Mucosa	stomach
13	chr19:19433800-19437800	Strong transcription	Fetal Lung	lung
14	chr19:19433800-19438800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:19433800-19468400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:19433800-19469800	Strong transcription	Fetal Intestine Large	intestine
17	chr19:19433800-19470400	Strong transcription	Placenta	Placenta
18	chr19:19434000-19437000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:19434000-19437400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:19434000-19445600	Strong transcription	Fetal Intestine Small	intestine
21	chr19:19434200-19437200	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr19:19434200-19437200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr19:19434200-19437400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:19434200-19469000	Strong transcription	Fetal Thymus	thymus
25	chr19:19434200-19469800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:19434200-19469800	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr19:19434400-19436800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr19:19434400-19436800	Strong transcription	HepG2	liver
29	chr19:19434400-19437200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:19434400-19437200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:19434400-19437200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:19434400-19437200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr19:19434400-19437200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr19:19434400-19437200	Strong transcription	HMEC	breast
35	chr19:19434400-19437400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr19:19434400-19437400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr19:19434400-19438000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:19434400-19443600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:19434400-19449800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:19434400-19450600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr19:19434600-19436400	Strong transcription	Colonic Mucosa	Colon
42	chr19:19434600-19437000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr19:19434600-19437000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:19434600-19437000	Strong transcription	NH-A	brain
45	chr19:19434600-19437200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:19434600-19439800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr19:19434600-19445400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:19434600-19448200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:19434600-19466000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:19434800-19436800	Strong transcription	Primary B cells from cord blood	blood

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