Variant report

Variant	rs7568165
Chromosome Location	chr2:189840050-189840051
allele	A/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	POLR2A	chr2:189838863-189842414	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr2:189840047-189842363	SK-N-SH	brain:	n/a	chr2:189842247-189842257
3	POLR2A	chr2:189839946-189840830	PFSK-1	brain:	n/a	n/a
4	NFIC	chr2:189839875-189841946	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr2:189840048-189840999	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr2:189838224-189842514	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189467608..189469705-chr2:189839952..189841474,2	MCF-7	breast:

Variant related genes	Relation type
MIR1245A	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11887092	1.00[CEU][hapmap]
rs12619321	1.00[CEU][hapmap]
rs16830965	1.00[CEU][hapmap]
rs2351419	1.00[CEU][hapmap]
rs3806465	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834490	chr2:189703550-189840963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv584056	chr2:189796272-189841052	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv459992	chr2:189796272-189855943	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv584057	chr2:189796272-189855943	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875609	chr2:189796272-189862097	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv584058	chr2:189799499-189855943	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
8	esv1791841	chr2:189811074-189864582	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189834200-189842800	Weak transcription	A549	lung
2	chr2:189837400-189844000	Active TSS	NHDF-Ad	bronchial
3	chr2:189837800-189842800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:189837800-189844800	Active TSS	Stomach Smooth Muscle	stomach
5	chr2:189838000-189844600	Active TSS	Right Atrium	heart
6	chr2:189838000-189844800	Active TSS	Adipose Nuclei	Adipose
7	chr2:189838000-189844800	Active TSS	NHLF	lung
8	chr2:189838200-189843000	Active TSS	Fetal Lung	lung
9	chr2:189838200-189844800	Active TSS	Fetal Stomach	stomach
10	chr2:189838200-189846000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:189838200-189849400	Active TSS	Fetal Muscle Leg	muscle
12	chr2:189838400-189842200	Active TSS	NH-A	brain
13	chr2:189838400-189843400	Active TSS	Fetal Intestine Small	intestine
14	chr2:189838400-189844400	Active TSS	Fetal Intestine Large	intestine
15	chr2:189838400-189844600	Active TSS	Fetal Kidney	kidney
16	chr2:189838400-189844600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr2:189838400-189844800	Active TSS	Fetal Muscle Trunk	muscle
18	chr2:189838400-189845000	Active TSS	HSMMtube	muscle
19	chr2:189838600-189843000	Active TSS	Aorta	Aorta
20	chr2:189838600-189843000	Active TSS	HSMM	muscle
21	chr2:189838600-189843600	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr2:189838600-189844600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:189838600-189844600	Active TSS	Rectal Smooth Muscle	rectum
24	chr2:189838600-189844800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:189838600-189844800	Active TSS	Colon Smooth Muscle	Colon
26	chr2:189838600-189844800	Active TSS	Ovary	ovary
27	chr2:189838800-189842400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:189838800-189843000	Active TSS	Placenta	Placenta
29	chr2:189838800-189843600	Active TSS	Placenta Amnion	Placenta Amnion
30	chr2:189838800-189843600	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr2:189838800-189844000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:189839000-189840600	Active TSS	Muscle Satellite Cultured Cells	--
33	chr2:189839000-189840600	Active TSS	Osteobl	bone
34	chr2:189839000-189841400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr2:189839000-189841800	Active TSS	Colonic Mucosa	Colon
36	chr2:189839000-189842200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:189839000-189842400	Active TSS	Duodenum Mucosa	Duodenum
38	chr2:189839000-189842400	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr2:189839000-189843400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr2:189839200-189840600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:189839200-189840800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:189839200-189841000	Active TSS	Brain Hippocampus Middle	brain
43	chr2:189839200-189841600	Active TSS	Right Ventricle	heart
44	chr2:189839200-189842400	Active TSS	Fetal Brain Male	brain
45	chr2:189839200-189843600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:189839400-189840400	Weak transcription	Esophagus	oesophagus
47	chr2:189839400-189840400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr2:189839400-189840800	Weak transcription	Small Intestine	intestine
49	chr2:189839400-189841000	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr2:189839400-189841200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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