Variant report

Variant	rs10501414
Chromosome Location	chr11:73883763-73883764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:73883664-73883810	MCF10A-Er-Src	breast:	n/a	chr11:73883770-73883778 chr11:73883767-73883781
2	MXI1	chr11:73880716-73883772	SK-N-SH	brain:	n/a	chr11:73881654-73881669
3	HCFC1	chr11:73880709-73884271	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73694022..73695981-chr11:73881444..73883965,2	MCF-7	breast:
2	chr11:73691455..73695821-chr11:73881160..73884452,10	K562	blood:

Variant related genes	Relation type
C2CD3	TF binding region
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 167 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs10219224	1.00[CEU][hapmap]
rs10488770	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488771	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10501413	1.00[CEU][hapmap];1.00[JPT][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]
rs10501415	0.81[YRI][hapmap]
rs1055178	0.86[ASN][1000 genomes]
rs10898960	0.91[YRI][hapmap]
rs10898961	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10898963	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11235973	1.00[CEU][hapmap]
rs11235979	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11235981	0.86[ASN][1000 genomes]
rs11235982	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11236003	0.91[YRI][hapmap]
rs11600314	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11602451	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11604125	0.91[YRI][hapmap]
rs11604713	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs11606804	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs11608147	0.89[YRI][hapmap]
rs11823967	1.00[CEU][hapmap]
rs12277116	0.86[ASN][1000 genomes]
rs12277407	0.86[ASN][1000 genomes]
rs12286033	1.00[CEU][hapmap]
rs12291090	1.00[ASN][1000 genomes]
rs12295243	0.86[ASN][1000 genomes]
rs12421228	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12574650	0.85[AFR][1000 genomes]
rs12794753	1.00[ASN][1000 genomes]
rs1405653	0.89[AFR][1000 genomes]
rs1405654	0.87[AFR][1000 genomes]
rs1685340	1.00[CEU][hapmap]
rs17132567	1.00[CEU][hapmap]
rs17132602	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132610	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132617	1.00[CEU][hapmap]
rs17132620	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132629	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132632	1.00[CEU][hapmap]
rs17132721	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132796	1.00[CEU][hapmap];1.00[JPT][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]
rs17132801	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132816	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132818	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132826	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132836	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132837	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132846	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132855	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132864	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132870	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132881	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs17132882	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132891	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132911	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132914	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132921	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132931	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132947	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132965	1.00[ASN][1000 genomes]
rs17132991	1.00[JPT][hapmap]
rs17160052	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1726759	1.00[CEU][hapmap]
rs1790392	0.86[ASN][1000 genomes]
rs1790393	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2154971	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178000	0.96[YRI][hapmap]
rs2186561	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272321	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs34895949	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814724	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs3897548	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4019299	0.91[YRI][hapmap]
rs4121666	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs41349744	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4489773	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4539349	0.97[YRI][hapmap];0.87[AFR][1000 genomes]
rs4575301	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520523	1.00[CEU][hapmap]
rs531902	1.00[CEU][hapmap]
rs55793503	0.86[ASN][1000 genomes]
rs55814391	1.00[ASN][1000 genomes]
rs560814	1.00[CEU][hapmap]
rs56142225	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56171120	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56295430	0.86[ASN][1000 genomes]
rs56343229	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56808069	1.00[ASN][1000 genomes]
rs56984031	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57115412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57384187	1.00[ASN][1000 genomes]
rs57393325	1.00[ASN][1000 genomes]
rs57642592	1.00[ASN][1000 genomes]
rs58102808	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58421256	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58727177	0.86[ASN][1000 genomes]
rs58898896	1.00[ASN][1000 genomes]
rs600145	1.00[CEU][hapmap]
rs60044681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60206858	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60218608	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60219367	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60636561	0.86[ASN][1000 genomes]
rs60759798	0.86[ASN][1000 genomes]
rs60981452	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61132076	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61902362	0.89[AFR][1000 genomes]
rs644421	1.00[CEU][hapmap]
rs6592549	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592550	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670974	1.00[CEU][hapmap]
rs7106817	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107268	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110062	1.00[CEU][hapmap];1.00[JPT][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]
rs7110734	0.89[YRI][hapmap]
rs7113898	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117866	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7120494	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7126381	1.00[CEU][hapmap]
rs7126696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127358	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129659	1.00[CEU][hapmap];1.00[JPT][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]
rs7129774	1.00[CEU][hapmap];1.00[JPT][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]
rs73549014	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73549059	1.00[ASN][1000 genomes]
rs73549071	1.00[ASN][1000 genomes]
rs73550730	1.00[ASN][1000 genomes]
rs73550751	1.00[ASN][1000 genomes]
rs73550754	1.00[ASN][1000 genomes]
rs73550755	1.00[ASN][1000 genomes]
rs73550761	1.00[ASN][1000 genomes]
rs73550769	0.86[ASN][1000 genomes]
rs73550772	1.00[ASN][1000 genomes]
rs73555974	0.86[ASN][1000 genomes]
rs73555986	0.86[ASN][1000 genomes]
rs73557906	0.86[ASN][1000 genomes]
rs73561882	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73561885	1.00[ASN][1000 genomes]
rs73565826	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565828	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565829	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565839	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565840	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565842	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924965	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925320	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925695	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926891	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943916	1.00[ASN][1000 genomes]
rs7947458	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826048	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs826059	0.86[ASN][1000 genomes]
rs826068	0.86[ASN][1000 genomes]
rs826069	0.86[ASN][1000 genomes]
rs826071	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs826072	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs826073	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs826075	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs826079	1.00[CEU][hapmap]
rs826081	1.00[CEU][hapmap]
rs826082	1.00[CEU][hapmap]
rs826085	0.86[ASN][1000 genomes]
rs866650	0.81[YRI][hapmap]
rs947840	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][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	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
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73880200-73886600	Active TSS	HSMMtube	muscle
2	chr11:73880600-73883800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:73880800-73884200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:73881200-73883800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:73881200-73883800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:73881200-73884000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:73881200-73884000	Active TSS	K562	blood
8	chr11:73881200-73884200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:73881200-73885000	Active TSS	HSMM	muscle
10	chr11:73881200-73885600	Active TSS	GM12878-XiMat	blood
11	chr11:73881400-73884400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:73881600-73883800	Active TSS	Placenta	Placenta
13	chr11:73882400-73884200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:73882400-73884200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr11:73882600-73883800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:73882600-73884000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr11:73882800-73883800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr11:73882800-73883800	Flanking Active TSS	Liver	Liver
19	chr11:73882800-73883800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:73882800-73884000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr11:73882800-73884200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr11:73883000-73883800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:73883000-73883800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr11:73883000-73883800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:73883000-73883800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr11:73883000-73883800	Enhancers	Gastric	stomach
27	chr11:73883000-73883800	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr11:73883000-73883800	Flanking Active TSS	Thymus	Thymus
29	chr11:73883000-73883800	Flanking Active TSS	HUVEC	blood vessel
30	chr11:73883000-73884000	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr11:73883000-73884000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr11:73883000-73884200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:73883000-73884200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr11:73883000-73884200	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr11:73883000-73884200	Flanking Active TSS	Fetal Brain Female	brain
36	chr11:73883000-73884200	Enhancers	Small Intestine	intestine
37	chr11:73883000-73884200	Flanking Active TSS	Dnd41	blood
38	chr11:73883000-73884200	Flanking Active TSS	Hela-S3	cervix
39	chr11:73883000-73902000	Weak transcription	Lung	lung
40	chr11:73883200-73883800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:73883200-73883800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:73883200-73883800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:73883200-73883800	Flanking Active TSS	Colonic Mucosa	Colon
44	chr11:73883200-73883800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:73883200-73883800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr11:73883200-73884000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr11:73883200-73884000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:73883200-73884200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:73883200-73884200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:73883200-73884200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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