Variant report

Variant	rs1790346
Chromosome Location	chr11:71144895-71144896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71137647..71140040-chr11:71141812..71145984,4	K562	blood:
2	chr11:71144482..71146798-chr11:71158407..71160975,3	K562	blood:
3	chr11:71142709..71145080-chr11:71152155..71155719,3	K562	blood:
4	chr11:71138540..71142714-chr11:71144455..71147360,4	K562	blood:
5	chr11:71144398..71146962-chr11:71155881..71158329,2	K562	blood:

Variant related genes	Relation type
ENSG00000254682	Chromatin interaction
ENSG00000172893	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1044535	1.00[CEU][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10751102	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10792743	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10898117	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11233606	0.94[EUR][1000 genomes]
rs11608138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12281481	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1616994	0.87[AMR][1000 genomes]
rs1623080	0.97[EUR][1000 genomes]
rs1626291	0.94[EUR][1000 genomes]
rs1790325	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790326	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790327	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790329	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790334	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1790337	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1790347	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790348	0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1790354	0.94[EUR][1000 genomes]
rs1790355	0.94[EUR][1000 genomes]
rs1790356	0.89[EUR][1000 genomes]
rs1790357	0.94[EUR][1000 genomes]
rs1790361	0.80[AMR][1000 genomes]
rs1790373	1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1792265	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792268	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792270	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792271	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792272	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792274	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792275	1.00[CEU][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792276	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1792278	1.00[CEU][hapmap]
rs1792279	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1792285	0.94[EUR][1000 genomes]
rs1792316	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1792319	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2002906	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2155425	0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2186773	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2186778	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2276353	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2276354	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2282617	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2282618	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2282619	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2298772	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511279	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2851693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3763859	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3763860	1.00[CEU][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794065	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794066	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794067	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3814731	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3814734	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944063	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944064	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944075	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944080	0.88[ASN][1000 genomes]
rs4944999	0.84[ASN][1000 genomes]
rs4945001	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4945007	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4945013	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6592154	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6592180	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7110053	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7110316	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7113783	0.93[ASN][1000 genomes]
rs7123973	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7124675	0.94[EUR][1000 genomes]
rs7129099	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs751389	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs760241	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7690	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926054	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7950584	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs949176	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs949178	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv518163	chr11:71142350-71155153	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71135000-71150600	Weak transcription	NH-A	brain
2	chr11:71135400-71145000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:71137200-71145000	Weak transcription	Brain Germinal Matrix	brain
4	chr11:71137200-71149600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:71137600-71146000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:71138000-71145200	Weak transcription	HMEC	breast
7	chr11:71139200-71145000	Weak transcription	GM12878-XiMat	blood
8	chr11:71139200-71145800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:71139400-71145000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:71139600-71145200	Enhancers	Ovary	ovary
11	chr11:71140400-71145000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:71140600-71158200	Weak transcription	Fetal Brain Male	brain
13	chr11:71140800-71145800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:71140800-71154000	Weak transcription	Fetal Lung	lung
15	chr11:71140800-71154000	Weak transcription	HSMM	muscle
16	chr11:71141000-71145800	Weak transcription	HSMMtube	muscle
17	chr11:71141200-71148200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:71141600-71145000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:71141600-71145200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:71141800-71145800	Enhancers	Liver	Liver
21	chr11:71142400-71145400	Enhancers	Right Atrium	heart
22	chr11:71142400-71145600	Enhancers	Brain Hippocampus Middle	brain
23	chr11:71142400-71145800	Weak transcription	NHLF	lung
24	chr11:71142400-71146800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:71142600-71146000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:71142600-71146000	Weak transcription	Thymus	Thymus
27	chr11:71142800-71147800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:71143000-71145200	Enhancers	Adipose Nuclei	Adipose
29	chr11:71143000-71145200	Enhancers	Fetal Intestine Large	intestine
30	chr11:71143000-71145600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:71143000-71145800	Enhancers	Brain Anterior Caudate	brain
32	chr11:71143000-71148200	Weak transcription	NHDF-Ad	bronchial
33	chr11:71143000-71148400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:71143000-71150600	Weak transcription	Osteobl	bone
35	chr11:71143200-71145200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr11:71143200-71145400	Enhancers	Brain Angular Gyrus	brain
37	chr11:71143200-71145400	Enhancers	Brain Cingulate Gyrus	brain
38	chr11:71143200-71145400	Enhancers	Brain Substantia Nigra	brain
39	chr11:71143400-71145600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:71143400-71145800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:71143600-71145200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:71143600-71145200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:71143600-71145400	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr11:71143600-71146000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:71143600-71146400	Weak transcription	Aorta	Aorta
46	chr11:71143600-71149400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr11:71143800-71145400	Enhancers	Stomach Mucosa	stomach
48	chr11:71143800-71145600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:71143800-71146400	Enhancers	Placenta	Placenta
50	chr11:71144000-71145000	Enhancers	Lung	lung

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