Variant report

Variant	rs7945336
Chromosome Location	chr11:100590449-100590450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100578654..100584539-chr11:100585758..100591241,5	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11224405	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11224426	0.85[AFR][1000 genomes]
rs11824393	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11824432	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12278242	0.84[ASN][1000 genomes]
rs12284151	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12291857	0.84[ASN][1000 genomes]
rs12295008	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17095405	0.88[ASN][1000 genomes]
rs17095409	0.88[ASN][1000 genomes]
rs2088953	0.88[ASN][1000 genomes]
rs2298610	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2298611	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2407750	0.88[ASN][1000 genomes]
rs4087602	0.82[ASN][1000 genomes]
rs4469852	0.88[ASN][1000 genomes]
rs4517481	0.88[ASN][1000 genomes]
rs4753983	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58727919	0.88[ASN][1000 genomes]
rs60708905	0.88[ASN][1000 genomes]
rs61890760	0.88[ASN][1000 genomes]
rs61892334	0.88[ASN][1000 genomes]
rs61892352	0.88[ASN][1000 genomes]
rs61892355	0.88[ASN][1000 genomes]
rs61910476	0.88[ASN][1000 genomes]
rs61910478	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61910480	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61910505	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61910508	0.94[ASN][1000 genomes]
rs6590818	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7116153	0.88[ASN][1000 genomes]
rs7117515	0.88[ASN][1000 genomes]
rs7120147	0.88[AFR][1000 genomes]
rs7126015	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7126324	0.88[ASN][1000 genomes]
rs7130855	0.88[ASN][1000 genomes]
rs73003836	0.82[ASN][1000 genomes]
rs73005729	0.88[ASN][1000 genomes]
rs7945656	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7947761	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1039852	chr11:99901695-100610533	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv541152	chr11:99901695-100610533	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1043022	chr11:100387466-100610533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv832246	chr11:100426725-100606957	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv898327	chr11:100569021-100631075	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100561000-100590600	Weak transcription	Lung	lung
2	chr11:100586400-100590600	Weak transcription	Fetal Kidney	kidney
3	chr11:100588800-100591400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:100589000-100592200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:100589800-100590600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:100589800-100590600	Enhancers	Colon Smooth Muscle	Colon
7	chr11:100589800-100590800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:100589800-100590800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr11:100589800-100591000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:100589800-100591000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr11:100589800-100591000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:100589800-100591000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:100589800-100591000	Enhancers	Fetal Heart	heart
14	chr11:100589800-100591000	Enhancers	NHDF-Ad	bronchial
15	chr11:100589800-100591000	Enhancers	NHLF	lung
16	chr11:100589800-100591200	Flanking Active TSS	A549	lung
17	chr11:100590000-100590600	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr11:100590000-100590600	Enhancers	Fetal Brain Male	brain
19	chr11:100590000-100590800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:100590000-100590800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr11:100590000-100590800	Enhancers	Brain Cingulate Gyrus	brain
22	chr11:100590000-100590800	Enhancers	Fetal Intestine Small	intestine
23	chr11:100590000-100591000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr11:100590000-100591000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr11:100590000-100591000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:100590000-100591000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:100590000-100591000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr11:100590000-100591000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:100590000-100591000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:100590000-100591000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:100590000-100591000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:100590000-100591000	Enhancers	Fetal Muscle Leg	muscle
33	chr11:100590000-100591000	Enhancers	Fetal Stomach	stomach
34	chr11:100590000-100591000	Enhancers	Gastric	stomach
35	chr11:100590000-100591000	Enhancers	Left Ventricle	heart
36	chr11:100590000-100591000	Enhancers	Psoas Muscle	Psoas
37	chr11:100590000-100591000	Enhancers	Stomach Mucosa	stomach
38	chr11:100590000-100591000	Enhancers	HSMM	muscle
39	chr11:100590000-100591000	Enhancers	Osteobl	bone
40	chr11:100590000-100591200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:100590000-100591200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr11:100590000-100591200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:100590000-100591200	Enhancers	HUVEC	blood vessel
44	chr11:100590000-100591200	Enhancers	NH-A	brain
45	chr11:100590200-100590600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:100590200-100590600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:100590200-100590600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:100590200-100590600	Enhancers	Colonic Mucosa	Colon
49	chr11:100590200-100590600	Enhancers	Fetal Brain Female	brain
50	chr11:100590200-100590600	Active TSS	Pancreatic Islets	Pancreatic Islet

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