Variant report

Variant	rs12285911
Chromosome Location	chr11:46704978-46704979
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	POLR2A	chr11:46704915-46705059	Hela-S3	cervix:	n/a	n/a
2	FOS	chr11:46704727-46705059	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr11:46704897-46705068	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr11:46704731-46705044	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr11:46704715-46705068	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr11:46704732-46705067	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:46704737-46704991	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46704485..46707161-chr11:46734142..46735793,2	K562	blood:
2	chr11:46704275..46710507-chr11:46714249..46719303,8	MCF-7	breast:
3	chr11:46704037..46706456-chr11:46719312..46722253,3	K562	blood:
4	chr11:46208238..46210812-chr11:46703843..46706732,2	K562	blood:
5	chr11:46689739..46692664-chr11:46704932..46706618,2	K562	blood:

Variant related genes	Relation type
ARHGAP1	TF binding region
ENSG00000175220	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11038933	1.00[LWK][hapmap]
rs11601182	1.00[LWK][hapmap]
rs12797858	1.00[LWK][hapmap]
rs2306031	1.00[LWK][hapmap]
rs35314669	1.00[LWK][hapmap]
rs4400757	1.00[LWK][hapmap]
rs4423141	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
2	chr11:46689600-46706200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:46691600-46705600	Weak transcription	Fetal Brain Male	brain
4	chr11:46691600-46709200	Weak transcription	HUVEC	blood vessel
5	chr11:46697200-46705200	Strong transcription	Fetal Brain Female	brain
6	chr11:46697200-46705800	Strong transcription	Thymus	Thymus
7	chr11:46697200-46716000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:46697200-46721200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:46697800-46706200	Strong transcription	Rectal Smooth Muscle	rectum
10	chr11:46697800-46709200	Strong transcription	Fetal Stomach	stomach
11	chr11:46698000-46708800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:46698000-46708800	Strong transcription	Stomach Smooth Muscle	stomach
13	chr11:46698000-46718600	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr11:46698200-46705600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:46698200-46706000	Strong transcription	Fetal Lung	lung
16	chr11:46698200-46706200	Strong transcription	Dnd41	blood
17	chr11:46698200-46708600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:46698400-46709000	Weak transcription	Fetal Kidney	kidney
19	chr11:46698400-46719400	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:46698600-46705000	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr11:46698600-46705800	Strong transcription	Gastric	stomach
22	chr11:46698600-46706600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:46698800-46705000	Strong transcription	Brain Cingulate Gyrus	brain
24	chr11:46698800-46706200	Strong transcription	Fetal Thymus	thymus
25	chr11:46699000-46705000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr11:46699000-46705000	Weak transcription	Right Atrium	heart
27	chr11:46699000-46706000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:46699000-46706000	Strong transcription	Lung	lung
29	chr11:46699200-46705600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:46699200-46706000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:46699200-46706000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:46699200-46706200	Strong transcription	Primary T cells from cord blood	blood
33	chr11:46699200-46706200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:46699200-46706200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:46699200-46706400	Strong transcription	Primary B cells from cord blood	blood
36	chr11:46699200-46715800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:46699200-46716400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:46699200-46717000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:46699200-46717200	Strong transcription	Liver	Liver
40	chr11:46699200-46719000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr11:46699400-46705000	Strong transcription	Colonic Mucosa	Colon
42	chr11:46699600-46705200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:46699600-46706600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:46699800-46706000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:46699800-46706400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:46699800-46715200	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:46700000-46705600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:46700000-46706200	Strong transcription	Osteobl	bone
49	chr11:46700200-46705200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:46700400-46708400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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