Variant report

Variant	rs674995
Chromosome Location	chr11:73360262-73360263
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	ZEB1	chr11:73358380-73360542	HepG2	liver:	n/a	chr11:73358908-73358917 chr11:73358906-73358917
2	HDAC2	chr11:73359688-73360300	HepG2	liver:	n/a	chr11:73360001-73360020
3	POLR2A	chr11:73359636-73360435	HepG2	liver:	n/a	n/a
4	FOXA2	chr11:73359408-73360352	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:73359769-73360546	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73350129..73352943-chr11:73358005..73360556,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHB1	TF binding region
ENSG00000270323	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11235831	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235835	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235836	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235837	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273310	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273355	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274744	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1278292	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1784498	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1784499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2509065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2512634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3016498	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55696411	1.00[EUR][1000 genomes]
rs581888	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs593056	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs593927	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs597784	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs598219	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs609218	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs623566	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs623595	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs639139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs640153	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs642610	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs643464	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs676375	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs676390	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs676402	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs683076	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv525173	chr11:73356872-73364673	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv521125	chr11:73359236-73378142	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73356200-73360800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:73356800-73360600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:73357200-73364000	Weak transcription	Liver	Liver
4	chr11:73357800-73364200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:73358200-73361000	Flanking Active TSS	HepG2	liver
6	chr11:73358600-73360400	Active TSS	Brain Angular Gyrus	brain
7	chr11:73358600-73363200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:73358800-73360600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:73359000-73360600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:73359000-73361000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:73359000-73363200	Weak transcription	Right Atrium	heart
12	chr11:73359000-73371600	Weak transcription	Fetal Brain Female	brain
13	chr11:73359000-73371600	Weak transcription	Right Ventricle	heart
14	chr11:73359200-73360400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
15	chr11:73359200-73360400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr11:73359200-73360400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:73359200-73360600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:73359200-73361000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:73359200-73361800	Weak transcription	Primary T cells from cord blood	blood
20	chr11:73359200-73362200	Weak transcription	Fetal Intestine Small	intestine
21	chr11:73359200-73362600	Weak transcription	HMEC	breast
22	chr11:73359200-73362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:73359200-73362800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:73359200-73362800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:73359200-73362800	Weak transcription	Gastric	stomach
26	chr11:73359200-73363000	Weak transcription	Brain Germinal Matrix	brain
27	chr11:73359200-73363200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:73359200-73363200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:73359200-73367200	Weak transcription	Spleen	Spleen
30	chr11:73359200-73371600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:73359200-73371600	Weak transcription	Thymus	Thymus
32	chr11:73359200-73371800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:73359400-73360800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:73359400-73362600	Weak transcription	Pancreas	Pancrea
35	chr11:73359400-73363000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:73359400-73363400	Weak transcription	Stomach Mucosa	stomach
37	chr11:73359400-73367000	Weak transcription	Lung	lung
38	chr11:73359400-73371800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:73359600-73361600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:73359600-73362800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:73359600-73363400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:73359600-73372200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:73359800-73360400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:73359800-73360600	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr11:73359800-73360600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr11:73359800-73360600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr11:73359800-73362800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:73359800-73362800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:73359800-73363200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:73359800-73371800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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