Variant report

Variant	rs11554231
Chromosome Location	chr1:151039999-151040000
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	REST	chr1:151039825-151040074	K562	blood:	n/a	n/a

Variant related genes	Relation type
GABPB2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1115	1.00[CHB][hapmap]
rs11583345	1.00[MEX][hapmap]
rs12087316	1.00[CEU][hapmap]
rs12757785	1.00[JPT][hapmap]
rs16832595	1.00[CHB][hapmap]
rs16832602	1.00[CHB][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151033000-151042800	Weak transcription	Gastric	stomach
2	chr1:151033200-151042200	Weak transcription	Esophagus	oesophagus
3	chr1:151033200-151042200	Weak transcription	Pancreas	Pancrea
4	chr1:151033200-151042600	Weak transcription	Aorta	Aorta
5	chr1:151033600-151041800	Weak transcription	Primary B cells from cord blood	blood
6	chr1:151033600-151042200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:151033800-151042600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:151033800-151042600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:151033800-151042600	Weak transcription	Right Atrium	heart
10	chr1:151034000-151041800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:151034000-151041800	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:151034000-151041800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:151034000-151042000	Weak transcription	Spleen	Spleen
14	chr1:151034000-151042200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:151034000-151042400	Weak transcription	Fetal Intestine Small	intestine
16	chr1:151034200-151041600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:151034200-151042400	Weak transcription	Fetal Intestine Large	intestine
18	chr1:151034400-151041400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:151034400-151042200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:151034600-151041800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:151034600-151042600	Weak transcription	Fetal Kidney	kidney
22	chr1:151035200-151041600	Strong transcription	Fetal Thymus	thymus
23	chr1:151035800-151041800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:151035800-151041800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:151035800-151041800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:151035800-151042200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:151035800-151042200	Weak transcription	HMEC	breast
28	chr1:151035800-151042600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:151035800-151042600	Weak transcription	Brain Anterior Caudate	brain
30	chr1:151035800-151042600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:151035800-151042600	Weak transcription	NHEK	skin
32	chr1:151036000-151041800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:151036400-151041400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:151036400-151041800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:151036400-151042600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:151036400-151042600	Weak transcription	Osteobl	bone
37	chr1:151037200-151041600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:151037200-151041600	Weak transcription	Fetal Heart	heart
39	chr1:151037200-151042600	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:151037200-151042800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:151037400-151041000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:151037400-151041200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:151037400-151041600	Weak transcription	HSMM	muscle
44	chr1:151037400-151041800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:151037400-151042000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:151037400-151042600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:151037400-151042600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:151037400-151042600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:151037600-151041800	Strong transcription	HUVEC	blood vessel
50	chr1:151037600-151042800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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