Variant report

Variant	rs947840
Chromosome Location	chr11:73959369-73959370
allele	A/C
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	CTCF	chr11:73959343-73959388	GM20000	blood:	n/a	n/a

Variant related genes	Relation type
P4HA3	TF binding region

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10488770	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[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];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10501414	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1055178	0.86[ASN][1000 genomes]
rs11235979	0.86[ASN][1000 genomes]
rs11235981	0.86[ASN][1000 genomes]
rs11235982	0.86[ASN][1000 genomes]
rs11823967	1.00[CEU][hapmap]
rs12277116	0.86[ASN][1000 genomes]
rs12277407	0.86[ASN][1000 genomes]
rs12291090	1.00[ASN][1000 genomes]
rs12295243	0.86[ASN][1000 genomes]
rs12421228	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12794753	1.00[ASN][1000 genomes]
rs17132602	0.86[ASN][1000 genomes]
rs17132610	0.86[ASN][1000 genomes]
rs17132620	0.86[ASN][1000 genomes]
rs17132629	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];0.88[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];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132818	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132826	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132836	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132837	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17132846	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[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];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132870	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132873	0.83[AMR][1000 genomes]
rs17132881	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132882	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[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]
rs17133043	1.00[JPT][hapmap]
rs17160052	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790392	0.86[ASN][1000 genomes]
rs1790393	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2154971	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186561	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272321	0.86[ASN][1000 genomes]
rs34895949	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3897548	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
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];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575301	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512641	1.00[JPT][hapmap]
rs520523	1.00[CEU][hapmap]
rs528900	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	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56171120	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56295430	0.86[ASN][1000 genomes]
rs56343229	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56808069	1.00[ASN][1000 genomes]
rs56984031	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57115412	0.88[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	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58421256	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[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	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60206858	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60218608	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60219367	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60636561	0.86[ASN][1000 genomes]
rs60759798	0.86[ASN][1000 genomes]
rs60981452	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61132076	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644421	1.00[CEU][hapmap]
rs6592549	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592550	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670974	1.00[CEU][hapmap]
rs7106817	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107268	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110062	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113898	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7117866	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7126696	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127358	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129659	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129774	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73549014	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73549059	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];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	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73561885	1.00[ASN][1000 genomes]
rs73565826	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565828	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73565829	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565839	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565840	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565842	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924965	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925320	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925695	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7926891	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943916	1.00[ASN][1000 genomes]
rs7947458	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[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	0.86[ASN][1000 genomes]
rs826072	0.86[ASN][1000 genomes]
rs826073	0.86[ASN][1000 genomes]
rs826075	0.86[ASN][1000 genomes]
rs826085	0.86[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	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
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73907400-73969200	Weak transcription	HUVEC	blood vessel
2	chr11:73913800-73961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:73915600-73960600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:73921800-73962000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:73926400-73961800	Weak transcription	Fetal Intestine Small	intestine
6	chr11:73936000-73968000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:73936200-73966600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:73936400-73967000	Strong transcription	HSMM	muscle
9	chr11:73936400-73967600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:73937400-73961800	Weak transcription	Spleen	Spleen
11	chr11:73938800-73967400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:73941000-73967600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:73941000-73967800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:73942200-73962000	Weak transcription	Colonic Mucosa	Colon
15	chr11:73942600-73961600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:73942600-73962000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:73942800-73961800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:73943000-73961400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:73945600-73966800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:73946600-73966600	Strong transcription	A549	lung
21	chr11:73947600-73961800	Weak transcription	Right Ventricle	heart
22	chr11:73949400-73964600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:73950000-73963600	Weak transcription	Fetal Heart	heart
24	chr11:73950400-73966600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:73951600-73961600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:73951600-73961800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:73951800-73961200	Weak transcription	Brain Substantia Nigra	brain
28	chr11:73951800-73961800	Weak transcription	Brain Angular Gyrus	brain
29	chr11:73952000-73966800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:73952200-73962000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:73952400-73962000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:73952600-73962400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:73955000-73960200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:73955000-73964000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:73955000-73965400	Strong transcription	Hela-S3	cervix
36	chr11:73955000-73967600	Strong transcription	Fetal Thymus	thymus
37	chr11:73955400-73962400	Strong transcription	NH-A	brain
38	chr11:73955400-73964400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr11:73955800-73966600	Strong transcription	Placenta	Placenta
40	chr11:73955800-73968800	Weak transcription	Stomach Mucosa	stomach
41	chr11:73956000-73961000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:73956000-73967200	Strong transcription	HepG2	liver
43	chr11:73956600-73966200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr11:73956600-73966200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:73956800-73960000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:73956800-73962600	Strong transcription	Colon Smooth Muscle	Colon
47	chr11:73956800-73966000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:73956800-73966200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:73956800-73966200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:73956800-73966400	Strong transcription	Osteobl	bone

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