Variant report

Variant	rs13017027
Chromosome Location	chr2:32291903-32291904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32291390..32294322-chr2:32388476..32391076,2	MCF-7	breast:
2	chr2:32290727..32292444-chr2:32293437..32296073,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152683	Chromatin interaction
ENSG00000272716	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11676456	0.85[EUR][1000 genomes]
rs12468012	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32289600-32330800	Weak transcription	Spleen	Spleen
2	chr2:32289800-32292200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:32289800-32292200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr2:32289800-32292600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:32289800-32293800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:32289800-32297000	Weak transcription	Psoas Muscle	Psoas
7	chr2:32289800-32298400	Weak transcription	Small Intestine	intestine
8	chr2:32289800-32304000	Weak transcription	Ovary	ovary
9	chr2:32289800-32313800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:32289800-32314600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:32289800-32315800	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:32289800-32319400	Weak transcription	Aorta	Aorta
13	chr2:32289800-32319400	Weak transcription	Pancreas	Pancrea
14	chr2:32289800-32330800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:32290000-32292000	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:32290000-32292000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:32290000-32292000	Enhancers	Liver	Liver
18	chr2:32290000-32292400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:32290000-32292600	Enhancers	Fetal Brain Male	brain
20	chr2:32290000-32297400	Weak transcription	Osteobl	bone
21	chr2:32290000-32299600	Weak transcription	Thymus	Thymus
22	chr2:32290000-32315800	Weak transcription	Fetal Kidney	kidney
23	chr2:32290000-32315800	Weak transcription	HSMM	muscle
24	chr2:32290000-32316600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:32290000-32318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:32290200-32292000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:32290200-32292000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:32290200-32292400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:32290200-32295400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:32290200-32313800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:32290200-32330800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:32290400-32292200	Weak transcription	Right Atrium	heart
33	chr2:32290400-32292600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr2:32290400-32293600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:32290400-32297400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:32290400-32298200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:32290400-32304000	Weak transcription	Adipose Nuclei	Adipose
38	chr2:32290400-32313400	Weak transcription	Fetal Thymus	thymus
39	chr2:32290400-32313800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:32290400-32315000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:32290400-32315000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:32290400-32315000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:32290400-32331000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:32290400-32353400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:32290600-32292000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:32290600-32292600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:32290600-32295200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:32290600-32314800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:32290600-32330800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:32290800-32292000	Strong transcription	Fetal Muscle Trunk	muscle

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