Variant report

Variant	rs17123859
Chromosome Location	chr11:120255909-120255910
allele	A/G
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	chr11:120255860-120256010	HPAF	blood vessel:	n/a	n/a
2	TAF1	chr11:120255731-120256319	H1-neurons	neurons:	n/a	n/a
3	TAF1	chr11:120255814-120256354	H1-neurons	neurons:	n/a	n/a
4	CTCF	chr11:120255860-120256010	HRPEpiC	eye:	n/a	n/a
5	CTCF	chr11:120255780-120255930	HCM	heart:	n/a	n/a
6	CTCF	chr11:120255810-120256149	K562	blood:	n/a	n/a
7	EGR1	chr11:120255856-120256025	K562	blood:	n/a	n/a
8	POLR2A	chr11:120255729-120256890	H1-neurons	neurons:	n/a	n/a
9	ATF1	chr11:120255867-120256159	K562	blood:	n/a	n/a
10	RCOR1	chr11:120255845-120256151	K562	blood:	n/a	n/a
11	CTCF	chr11:120255900-120256050	HEK293	kidney:	n/a	n/a
12	CTCF	chr11:120255820-120255970	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr11:120255840-120255990	HCM	heart:	n/a	n/a
14	CTCF	chr11:120255860-120256010	HBMEC	blood vessel:	n/a	n/a
15	REST	chr11:120255583-120257512	H1-neurons	neurons:	n/a	n/a
16	JUND	chr11:120255821-120256177	K562	blood:	n/a	chr11:120256124-120256133
17	CTCF	chr11:120255860-120256010	BE2_C	brain:	n/a	n/a
18	ARID3A	chr11:120255843-120256128	K562	blood:	n/a	n/a
19	POLR2A	chr11:120255714-120256891	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ARHGEF12	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17123846	1.00[AMR][1000 genomes]
rs17123858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35811219	1.00[AMR][1000 genomes]
rs59764889	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS 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	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1047982	chr11:120238962-120276373	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1050709	chr11:120246224-120276373	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120217600-120257000	Weak transcription	HSMM	muscle
2	chr11:120224800-120260800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:120232000-120274800	Weak transcription	Ovary	ovary
4	chr11:120247800-120256000	Weak transcription	Brain Angular Gyrus	brain
5	chr11:120251200-120256000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:120251400-120256000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:120251400-120261200	Weak transcription	Brain Substantia Nigra	brain
8	chr11:120252400-120256600	Weak transcription	Stomach Mucosa	stomach
9	chr11:120253000-120256400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:120253200-120260800	Weak transcription	Fetal Lung	lung
11	chr11:120253800-120256200	Enhancers	Left Ventricle	heart
12	chr11:120253800-120256400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:120254000-120256200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:120254000-120258000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:120254200-120256000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:120254200-120256200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:120254200-120256600	Enhancers	NHEK	skin
18	chr11:120254200-120256800	Enhancers	Psoas Muscle	Psoas
19	chr11:120254200-120257800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:120254200-120258000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:120254200-120258000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:120254200-120258400	Enhancers	Liver	Liver
23	chr11:120254400-120256000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:120254400-120256200	Enhancers	HepG2	liver
25	chr11:120254400-120257000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:120254400-120257800	Enhancers	Fetal Heart	heart
27	chr11:120254400-120257800	Enhancers	NHDF-Ad	bronchial
28	chr11:120254400-120258000	Enhancers	Osteobl	bone
29	chr11:120254600-120256000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:120254600-120257800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:120254600-120265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:120254600-120266400	Weak transcription	Gastric	stomach
33	chr11:120254600-120271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:120254800-120256000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:120254800-120256000	Weak transcription	NH-A	brain
36	chr11:120255000-120256800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr11:120255000-120257400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr11:120255000-120257600	Enhancers	Colon Smooth Muscle	Colon
39	chr11:120255200-120256000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:120255200-120256000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr11:120255200-120256200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:120255200-120256200	Enhancers	HSMMtube	muscle
43	chr11:120255200-120257000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:120255200-120257400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr11:120255200-120258000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:120255400-120256000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:120255400-120256400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr11:120255400-120256400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:120255400-120256400	Enhancers	K562	blood
50	chr11:120255400-120256600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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