Variant report

Variant	rs11696004
Chromosome Location	chr2:153279726-153279727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153279392..153282139-chr2:153288134..153290095,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11694392	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693362	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12999503	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13388095	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16831021	1.00[JPT][hapmap]
rs16831082	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16831093	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16831100	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16831118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2345811	0.82[JPT][hapmap]
rs2345874	1.00[JPT][hapmap]
rs2345894	0.82[JPT][hapmap]
rs2346203	0.82[JPT][hapmap]
rs34006820	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34047327	0.83[EUR][1000 genomes]
rs35662043	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3811576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4254462	0.82[JPT][hapmap]
rs4664558	0.82[JPT][hapmap]
rs66663920	0.83[ASN][1000 genomes]
rs6746538	1.00[JPT][hapmap]
rs6757782	1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67689907	0.83[ASN][1000 genomes]
rs73012774	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73012784	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7587450	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7601047	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11696004	ARL6IP6	cis	parietal	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153264200-153288200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:153270200-153279800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:153270600-153279800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:153272600-153284800	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:153272600-153285400	Weak transcription	Gastric	stomach
6	chr2:153272800-153288200	Weak transcription	Right Atrium	heart
7	chr2:153274000-153280800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:153275200-153282600	Weak transcription	Fetal Brain Male	brain
9	chr2:153276200-153280600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:153276200-153280600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:153276600-153280200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:153276600-153282800	Weak transcription	Fetal Brain Female	brain
13	chr2:153276800-153280400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:153278200-153280000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:153278200-153280000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:153278200-153287400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:153278400-153282400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:153278400-153283000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:153278400-153286000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:153278400-153289800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:153278600-153279800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:153278600-153279800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:153278600-153280000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:153278600-153280000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:153278600-153282200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:153278600-153282200	Weak transcription	Fetal Kidney	kidney
27	chr2:153278600-153282200	Weak transcription	HSMMtube	muscle
28	chr2:153278600-153284200	Weak transcription	Fetal Lung	lung
29	chr2:153278600-153288000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:153278800-153279800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:153278800-153279800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:153278800-153280000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:153278800-153280200	Enhancers	Hela-S3	cervix
34	chr2:153278800-153280400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:153278800-153282400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:153278800-153282800	Weak transcription	Small Intestine	intestine
37	chr2:153278800-153288200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:153278800-153290600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr2:153278800-153291200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:153279000-153280000	Weak transcription	Brain Angular Gyrus	brain
41	chr2:153279000-153280000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:153279000-153280200	Enhancers	HMEC	breast
43	chr2:153279000-153280400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:153279000-153280800	Enhancers	A549	lung
45	chr2:153279000-153282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:153279000-153282600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:153279000-153282600	Weak transcription	Brain Anterior Caudate	brain
48	chr2:153279000-153282800	Weak transcription	Pancreas	Pancrea
49	chr2:153279000-153282800	Weak transcription	NHLF	lung
50	chr2:153279000-153284600	Weak transcription	Stomach Mucosa	stomach

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