Variant report

Variant	rs13404430
Chromosome Location	chr2:11381113-11381114
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11365381..11369172-chr2:11380510..11384403,4	K562	blood:
2	chr2:11380163..11381910-chr2:11382008..11384131,2	MCF-7	breast:
3	chr2:11375000..11377998-chr2:11380925..11383500,2	MCF-7	breast:

Extended variants
information (count: 111 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10167277	0.91[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10168084	0.84[CEU][hapmap];0.87[AMR][1000 genomes]
rs10169868	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10176416	0.86[AMR][1000 genomes]
rs10180914	0.86[ASN][1000 genomes]
rs10181567	0.99[ASN][1000 genomes]
rs10187981	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10189756	0.80[GIH][hapmap];0.82[JPT][hapmap]
rs10192483	0.85[CEU][hapmap];0.87[CHB][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes]
rs10204503	0.92[ASN][1000 genomes]
rs10495582	0.87[CHB][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.87[AMR][1000 genomes]
rs10754958	0.81[CEU][hapmap];0.87[CHB][hapmap];0.93[GIH][hapmap]
rs10929725	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10929726	0.83[AMR][1000 genomes]
rs10929727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10929728	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1129976	0.94[ASN][1000 genomes]
rs11674991	0.92[AMR][1000 genomes]
rs11676201	0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11680818	0.85[CEU][hapmap];0.87[CHB][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes]
rs11683010	0.94[ASN][1000 genomes]
rs11683786	0.81[CEU][hapmap]
rs11691429	0.87[AMR][1000 genomes]
rs11891012	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11891877	0.96[ASN][1000 genomes]
rs12465116	0.85[AMR][1000 genomes]
rs12469980	0.89[ASN][1000 genomes]
rs12470004	0.87[CHB][hapmap];0.83[AMR][1000 genomes]
rs12472868	0.85[AMR][1000 genomes]
rs12475086	0.87[CHB][hapmap];0.93[GIH][hapmap];0.83[MEX][hapmap];0.88[AMR][1000 genomes]
rs12476188	0.85[ASN][1000 genomes]
rs12478098	0.85[CEU][hapmap];0.87[CHB][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes]
rs12618325	0.95[ASN][1000 genomes]
rs12622447	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs12692436	0.80[ASN][1000 genomes]
rs12987956	0.93[GIH][hapmap]
rs12996399	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs13013938	0.84[EUR][1000 genomes]
rs13016911	0.80[ASN][1000 genomes]
rs13017010	0.94[ASN][1000 genomes]
rs13018466	0.91[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13022598	0.87[CHB][hapmap];0.84[AMR][1000 genomes]
rs13393192	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397757	0.96[CEU][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423864	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13424069	0.86[CHB][hapmap];0.87[AMR][1000 genomes]
rs1515219	0.82[CEU][hapmap];0.87[CHB][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes]
rs1546597	0.87[CHB][hapmap];0.87[AMR][1000 genomes]
rs1546598	0.87[CHB][hapmap];0.88[AMR][1000 genomes]
rs17366643	0.92[CEU][hapmap];0.87[CHB][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17366657	0.86[CHB][hapmap];0.85[AMR][1000 genomes]
rs17366874	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs17463896	0.87[CHB][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];0.85[AMR][1000 genomes]
rs1868585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1901010	0.81[CEU][hapmap];0.87[CHB][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap]
rs2011812	0.88[CEU][hapmap];0.87[CHB][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2056103	0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2122383	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs2176052	0.81[AMR][1000 genomes]
rs2230774	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2271621	0.92[ASN][1000 genomes]
rs2290156	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2357997	0.92[AMR][1000 genomes]
rs3206843	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34213264	0.85[AMR][1000 genomes]
rs34554628	0.92[ASN][1000 genomes]
rs35432367	0.85[AMR][1000 genomes]
rs35508648	0.85[AMR][1000 genomes]
rs35515036	0.85[AMR][1000 genomes]
rs36072395	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3732103	0.91[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap]
rs3771106	0.82[CEU][hapmap];0.87[CHB][hapmap];0.83[AMR][1000 genomes]
rs3856468	0.85[CEU][hapmap]
rs4477886	0.82[CHB][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes]
rs4595944	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4669700	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4669702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4669708	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs55641887	0.85[AMR][1000 genomes]
rs55995833	0.85[AMR][1000 genomes]
rs56243142	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56256182	0.85[AMR][1000 genomes]
rs57554471	0.85[AMR][1000 genomes]
rs58263533	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62121446	0.85[AMR][1000 genomes]
rs62121447	0.85[AMR][1000 genomes]
rs6705170	0.80[GIH][hapmap];0.90[JPT][hapmap]
rs6709947	0.80[ASN][1000 genomes]
rs6711793	0.85[AMR][1000 genomes]
rs6716447	0.82[CEU][hapmap];0.82[CHB][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.84[AMR][1000 genomes]
rs6716817	0.82[CHB][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes]
rs6728627	0.85[CEU][hapmap];0.87[CHB][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes]
rs6736194	0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs6739310	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6743710	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6753921	0.87[CHB][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes]
rs726843	0.87[CHB][hapmap];0.85[AMR][1000 genomes]
rs7560132	0.83[AMR][1000 genomes]
rs7580593	0.87[AMR][1000 genomes]
rs7581130	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7589152	0.81[CEU][hapmap];0.87[CHB][hapmap];0.85[AMR][1000 genomes]
rs7589629	0.85[CEU][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes]
rs7598032	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600696	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8996	0.87[CHB][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];0.83[AMR][1000 genomes]
rs921321	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs921322	0.81[AMR][1000 genomes]
rs978906	0.87[CHB][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.83[AMR][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	esv3395022	chr2:11316915-11426380	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1013570	chr2:11321519-11405246	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs13404430	IAH1	cis	cerebellum	SCAN
rs13404430	ROCK2	cis	lymphoblastoid	seeQTL
rs13404430	ROCK2	Cis_1M	lymphoblastoid	RTeQTL
rs13404430	C2orf50	cis	parietal	SCAN
rs13404430	PDIA6	cis	parietal	SCAN
rs13404430	ROCK2	cis	cerebellum	SCAN
rs13404430	PQLC3	cis	Thyroid	GTEx
rs13404430	PQLC3	cis	lung	GTEx
rs13404430	ROCK2	cis	parietal	SCAN
rs13404430	ROCK2	cis	multi-tissue	Pritchard
rs13404430	PQLC3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11297600-11394400	Weak transcription	Right Ventricle	heart
3	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
4	chr2:11333400-11386200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:11339800-11382600	Weak transcription	Esophagus	oesophagus
6	chr2:11341600-11384400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:11352600-11411200	Weak transcription	Thymus	Thymus
8	chr2:11352800-11424000	Weak transcription	HSMMtube	muscle
9	chr2:11354400-11382600	Weak transcription	Ovary	ovary
10	chr2:11354400-11388000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:11354600-11423800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:11359000-11382000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:11360400-11396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:11360800-11382800	Weak transcription	Spleen	Spleen
15	chr2:11361000-11382000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:11361000-11383800	Weak transcription	Fetal Kidney	kidney
17	chr2:11361000-11397000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:11361000-11397400	Weak transcription	Left Ventricle	heart
19	chr2:11361000-11399200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:11361000-11400200	Weak transcription	Gastric	stomach
21	chr2:11361000-11410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:11361000-11411200	Weak transcription	Fetal Thymus	thymus
23	chr2:11361000-11416600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:11361200-11425600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:11361600-11396800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:11364000-11387000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:11364400-11382400	Weak transcription	Adipose Nuclei	Adipose
28	chr2:11364400-11387600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:11364400-11423800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:11364600-11381600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:11364800-11397400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:11365400-11387400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:11365600-11383400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:11366000-11382800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:11366000-11391000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:11366400-11396800	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:11366600-11390800	Weak transcription	NHLF	lung
38	chr2:11367600-11387000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:11367600-11387000	Weak transcription	Placenta	Placenta
40	chr2:11367600-11388200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:11367800-11387000	Weak transcription	Dnd41	blood
42	chr2:11368200-11387000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:11368400-11381600	Weak transcription	Primary B cells from cord blood	blood
44	chr2:11368400-11394400	Weak transcription	Brain Angular Gyrus	brain
45	chr2:11369600-11382400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:11369600-11388000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:11370400-11394200	Weak transcription	Fetal Lung	lung
48	chr2:11372600-11382600	Weak transcription	Primary T cells from cord blood	blood
49	chr2:11372600-11397200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:11372600-11423800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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