Variant report

Variant	rs11602451
Chromosome Location	chr11:73875354-73875355
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73875087..73876757-chr11:73880619..73882192,2	K562	blood:
2	chr11:73874779..73879639-chr11:73880339..73885653,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168014	Chromatin interaction
ENSG00000214517	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10219237	0.88[MEX][hapmap]
rs10431176	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10501413	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10501414	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10501415	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898955	1.00[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs10898957	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs10898958	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898959	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898960	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10898961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10898962	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10898964	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10898966	0.92[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.85[ASN][1000 genomes]
rs10898975	0.87[CHD][hapmap]
rs10898976	0.82[CHD][hapmap]
rs11235965	0.83[JPT][hapmap]
rs11235971	0.83[JPT][hapmap]
rs11235972	0.90[CHB][hapmap];0.90[CHD][hapmap]
rs11235988	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235994	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs11235995	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.89[MEX][hapmap];0.82[ASN][1000 genomes]
rs11235996	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs11235997	0.82[ASN][1000 genomes]
rs11235998	0.82[ASN][1000 genomes]
rs11235999	0.94[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs11236000	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs11236002	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11236003	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236005	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236016	0.88[ASN][1000 genomes]
rs11236018	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11236020	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11236026	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236027	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236029	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11236042	0.87[CHD][hapmap]
rs11236053	0.87[CHD][hapmap]
rs11600314	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601582	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11603981	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11604125	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11604713	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];0.89[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11606804	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11607335	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs11608147	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];0.89[MEX][hapmap];0.95[MKK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12222213	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12223320	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs12574038	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs12574039	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs12574047	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.89[MEX][hapmap];0.82[ASN][1000 genomes]
rs12574556	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs12574650	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12574824	0.85[ASN][1000 genomes]
rs12574898	0.88[ASN][1000 genomes]
rs12574960	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12575211	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1405653	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1405654	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474471	0.82[ASN][1000 genomes]
rs1527302	0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1615607	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1685333	0.95[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs17132715	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs17132796	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs1800006	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs1800849	0.95[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs1944971	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2091436	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2178000	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.89[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282488	0.87[CHD][hapmap]
rs2302508	0.85[ASN][1000 genomes]
rs35826958	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3741132	0.87[CHD][hapmap]
rs3741133	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.88[MEX][hapmap];0.85[ASN][1000 genomes]
rs3741135	0.83[JPT][hapmap]
rs3814724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3819114	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4019299	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4121668	0.84[CEU][hapmap]
rs4539349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4565925	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap]
rs55823944	0.81[ASN][1000 genomes]
rs56298621	0.82[ASN][1000 genomes]
rs56366246	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57115412	0.91[AFR][1000 genomes]
rs57117016	0.81[ASN][1000 genomes]
rs59109060	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59605334	0.81[ASN][1000 genomes]
rs60044681	0.91[AFR][1000 genomes]
rs60834556	0.85[ASN][1000 genomes]
rs61901238	0.85[ASN][1000 genomes]
rs61901245	0.88[ASN][1000 genomes]
rs61901246	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61901247	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61901248	0.89[ASN][1000 genomes]
rs61901252	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61902362	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592547	0.83[EUR][1000 genomes]
rs7110062	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7110734	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7115146	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7115407	0.93[CHB][hapmap];0.83[JPT][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7117465	0.84[CEU][hapmap];0.87[CHD][hapmap]
rs7119710	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7125032	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.89[MEX][hapmap];0.82[ASN][1000 genomes]
rs7125400	0.82[ASN][1000 genomes]
rs7126696	0.91[AFR][1000 genomes]
rs7129659	0.94[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7129774	0.94[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs72341762	0.85[EUR][1000 genomes]
rs7930460	0.83[JPT][hapmap]
rs7935920	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7941203	0.80[ASN][1000 genomes]
rs7941525	0.80[ASN][1000 genomes]
rs7949639	0.92[CEU][hapmap];0.84[CHB][hapmap]
rs7951239	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7951290	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7951617	0.87[CHD][hapmap]
rs7951743	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7952669	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs826035	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs826044	0.95[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11602451	STARD10	cis	parietal	SCAN
rs11602451	FAM168A	cis	parietal	SCAN
rs11602451	PPME1	cis	cerebellum	SCAN
rs11602451	DNAJB13	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73802200-73880800	Weak transcription	Esophagus	oesophagus
2	chr11:73804000-73880800	Weak transcription	Aorta	Aorta
3	chr11:73817600-73880800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:73825000-73880400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:73825800-73878600	Weak transcription	Fetal Brain Male	brain
6	chr11:73844800-73880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:73847800-73880800	Weak transcription	Spleen	Spleen
8	chr11:73850200-73879600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:73850800-73875400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:73850800-73875600	Weak transcription	Brain Germinal Matrix	brain
11	chr11:73852000-73877000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:73852800-73877200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:73852800-73878000	Weak transcription	Psoas Muscle	Psoas
14	chr11:73854000-73881000	Weak transcription	Lung	lung
15	chr11:73858600-73880200	Weak transcription	NHLF	lung
16	chr11:73858600-73880800	Weak transcription	Ovary	ovary
17	chr11:73858600-73881000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:73859000-73880000	Weak transcription	HepG2	liver
19	chr11:73860000-73880600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:73862200-73877400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:73864000-73875800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:73865200-73875800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:73865200-73879600	Strong transcription	Fetal Thymus	thymus
24	chr11:73866000-73880400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:73866200-73876200	Weak transcription	Osteobl	bone
26	chr11:73866200-73878600	Weak transcription	NHDF-Ad	bronchial
27	chr11:73866200-73880600	Weak transcription	Small Intestine	intestine
28	chr11:73866400-73876800	Weak transcription	NH-A	brain
29	chr11:73866600-73875800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:73866800-73875400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:73866800-73877400	Weak transcription	HMEC	breast
32	chr11:73867600-73877800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:73867800-73880800	Weak transcription	Gastric	stomach
34	chr11:73868000-73875800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:73868000-73875800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:73868000-73875800	Weak transcription	Fetal Intestine Small	intestine
37	chr11:73868000-73875800	Weak transcription	Fetal Stomach	stomach
38	chr11:73868000-73881000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:73869200-73877600	Weak transcription	Hela-S3	cervix
40	chr11:73869400-73879800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:73869400-73879800	Strong transcription	Primary T cells from cord blood	blood
42	chr11:73869600-73881000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:73869800-73879400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:73870200-73875400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:73870200-73875400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:73871000-73879600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:73871000-73879600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:73871000-73879800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:73871600-73876000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:73871600-73880800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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