Variant report

Variant	rs9426182
Chromosome Location	chr1:247471561-247471562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247370419..247372444-chr1:247470264..247472870,2	K562	blood:
2	chr1:247453254..247455199-chr1:247471424..247473793,2	K562	blood:
3	chr1:247461556..247465350-chr1:247467126..247471967,7	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10754542	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10754544	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs10924983	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10924985	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10924989	0.85[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs11578583	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1192830	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1192831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1192832	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12035515	0.87[ASN][1000 genomes]
rs1204493	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1341173	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1616299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1771929	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1771943	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1771948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1778544	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1778546	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1778549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2153631	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2799540	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3850824	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4320815	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4925532	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4925533	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4925534	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4925615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4925621	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56037169	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56399534	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6674425	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6692645	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74163745	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7418221	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7528202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540329	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7552292	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs875883	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9426180	1.00[CEU][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9426181	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9426233	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9725334	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
3	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
5	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9426182	ZNF496	cis	lung	GTEx
rs9426182	ZNF496	cis	Nerve Tibial	GTEx
rs9426182	EDIL3	trans	lymphoblastoid	RTeQTL
rs9426182	ZNF496	cis	Esophagus Muscularis	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247456000-247493400	Weak transcription	Right Atrium	heart
2	chr1:247459800-247485800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:247460400-247493400	Strong transcription	Fetal Muscle Leg	muscle
4	chr1:247460800-247471600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:247460800-247474200	Strong transcription	Brain Germinal Matrix	brain
6	chr1:247460800-247474800	Strong transcription	Brain Cingulate Gyrus	brain
7	chr1:247460800-247476200	Weak transcription	HMEC	breast
8	chr1:247460800-247479800	Strong transcription	Fetal Brain Female	brain
9	chr1:247460800-247481000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:247460800-247491800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:247460800-247493400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr1:247461000-247475400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:247461000-247485400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:247461200-247473600	Weak transcription	HUVEC	blood vessel
15	chr1:247461200-247485400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:247461200-247488200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:247461400-247471600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:247461400-247485400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:247461400-247493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:247461600-247475200	Strong transcription	Aorta	Aorta
21	chr1:247461600-247481000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:247461800-247474200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr1:247462000-247473800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:247462000-247473800	Strong transcription	Primary T cells from cord blood	blood
25	chr1:247462000-247474000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:247462000-247474000	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr1:247462200-247473800	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:247462200-247473800	Strong transcription	K562	blood
29	chr1:247462200-247480000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:247462400-247473800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr1:247462400-247474000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:247462400-247474400	Strong transcription	Dnd41	blood
33	chr1:247462400-247475600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:247462600-247474000	Strong transcription	Fetal Intestine Small	intestine
35	chr1:247462600-247479200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:247462800-247473400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:247462800-247488000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:247463000-247473400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr1:247463000-247474000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr1:247463000-247475000	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr1:247463000-247477000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:247463000-247486200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:247463000-247486400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:247463000-247493600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:247463200-247473400	Strong transcription	Placenta	Placenta
46	chr1:247463200-247473800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:247463200-247481000	Strong transcription	Left Ventricle	heart
48	chr1:247463200-247493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:247463400-247473800	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr1:247463400-247473800	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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