Variant report

Variant	rs1784203
Chromosome Location	chr11:93450134-93450135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93449498..93453225-chr11:93454888..93458363,6	K562	blood:

Variant related genes	Relation type
ENSG00000254911	Chromatin interaction
ENSG00000166004	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1011993	1.00[CEU][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10734163	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10741470	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10741471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10741472	1.00[CEU][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10741473	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765621	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765622	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765624	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765625	0.88[AMR][1000 genomes]
rs10765626	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10765627	1.00[CEU][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10765629	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10765631	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10831085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10831086	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10831088	1.00[CEU][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10831092	0.82[AMR][1000 genomes]
rs11020471	1.00[CEU][hapmap]
rs11020477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11020493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11822965	1.00[CEU][hapmap]
rs12275974	1.00[CEU][hapmap]
rs12277621	0.82[ASN][1000 genomes]
rs12278291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12279657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12293939	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16919267	0.87[ASN][1000 genomes]
rs17174449	0.87[ASN][1000 genomes]
rs1944099	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1944101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1944102	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944103	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1944105	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1944106	1.00[CEU][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1954994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2155245	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2155246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2155248	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186686	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2288505	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs2298706	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs2298707	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs2434986	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2509840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737461	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs3802770	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs3802771	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs3802773	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs3802774	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs3802775	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs3819173	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs4237560	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4303195	1.00[CEU][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4303196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753095	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753096	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753097	1.00[CHB][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4753098	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753099	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4753101	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4753488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4753489	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753490	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753491	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4753492	0.82[AMR][1000 genomes]
rs4753493	0.81[AFR][1000 genomes]
rs4753495	1.00[CEU][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs586655	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs59220317	0.87[ASN][1000 genomes]
rs60224981	0.82[ASN][1000 genomes]
rs60264207	0.87[ASN][1000 genomes]
rs60410024	0.82[ASN][1000 genomes]
rs61918554	0.82[ASN][1000 genomes]
rs623510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628916	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs630648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642984	1.00[CEU][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs643924	0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655279	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7101779	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7115167	0.87[ASN][1000 genomes]
rs7121150	1.00[EUR][1000 genomes]
rs7127033	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7129028	0.87[ASN][1000 genomes]
rs7130267	0.82[ASN][1000 genomes]
rs7926876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7929351	0.87[ASN][1000 genomes]
rs7930519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7937088	0.84[ASN][1000 genomes]
rs7937523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7939834	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7939847	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs7940153	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7949850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7951514	0.87[ASN][1000 genomes]
rs7952443	0.82[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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1784203	LOC374421	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93423600-93450200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr11:93427000-93465800	Strong transcription	Hela-S3	cervix
3	chr11:93430800-93465400	Weak transcription	Stomach Mucosa	stomach
4	chr11:93431400-93450400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:93436000-93454600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:93440200-93460000	Weak transcription	NHLF	lung
7	chr11:93441600-93461200	Weak transcription	HSMMtube	muscle
8	chr11:93441800-93450600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:93442000-93450800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:93442000-93463200	Weak transcription	Colonic Mucosa	Colon
11	chr11:93442200-93454200	Weak transcription	NH-A	brain
12	chr11:93442600-93450800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:93442800-93460000	Weak transcription	Fetal Brain Male	brain
14	chr11:93443400-93451000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:93443600-93450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:93443600-93451000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:93443600-93454400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:93443600-93460200	Weak transcription	NHDF-Ad	bronchial
19	chr11:93444000-93450400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:93444000-93454400	Weak transcription	A549	lung
21	chr11:93444000-93454400	Weak transcription	HMEC	breast
22	chr11:93444000-93455200	Weak transcription	Brain Angular Gyrus	brain
23	chr11:93444000-93466400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:93444200-93450200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:93444200-93450400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:93444200-93454400	Weak transcription	Fetal Heart	heart
27	chr11:93444200-93462200	Weak transcription	Psoas Muscle	Psoas
28	chr11:93444400-93451200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:93444800-93471000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:93445400-93458600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:93445400-93465200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:93445800-93454400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:93446200-93454800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:93446800-93450800	Strong transcription	Fetal Thymus	thymus
35	chr11:93446800-93451200	Genic enhancers	K562	blood
36	chr11:93447200-93451000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:93447200-93459800	Strong transcription	Fetal Stomach	stomach
38	chr11:93447400-93450600	Strong transcription	GM12878-XiMat	blood
39	chr11:93447400-93452000	Strong transcription	Fetal Muscle Leg	muscle
40	chr11:93447600-93450600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:93447600-93451800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:93447600-93451800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:93447600-93451800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:93447600-93451800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:93447600-93453000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr11:93447600-93457800	Strong transcription	Liver	Liver
47	chr11:93447600-93468000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:93447800-93451000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:93447800-93451400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:93447800-93451600	Strong transcription	Fetal Intestine Large	intestine

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