Variant report

Variant	rs427177
Chromosome Location	chr2:32537827-32537828
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	chr2:32533026..32534673-chr2:32537279..32539306,2	K562	blood:
2	chr2:32536114..32538190-chr2:32545833..32547499,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272754	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10172308	0.86[ASN][1000 genomes]
rs1153122	0.84[ASN][1000 genomes]
rs387780	0.85[ASN][1000 genomes]
rs390480	0.83[ASN][1000 genomes]
rs398290	0.85[ASN][1000 genomes]
rs455737	0.90[ASN][1000 genomes]
rs458628	0.91[ASN][1000 genomes]
rs4952255	0.90[ASN][1000 genomes]
rs6755811	0.82[ASN][1000 genomes]
rs805830	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv1002120	chr2:32470452-32539443	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1004279	chr2:32470452-32543369	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	nsv979327	chr2:32532575-32554303	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv528463	chr2:32535568-32541438	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32504000-32540200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:32504000-32549400	Weak transcription	HSMMtube	muscle
3	chr2:32507800-32550000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:32514000-32553000	Weak transcription	Small Intestine	intestine
5	chr2:32514200-32555800	Weak transcription	Colonic Mucosa	Colon
6	chr2:32514800-32541000	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:32515400-32538800	Weak transcription	NHEK	skin
8	chr2:32517400-32553200	Weak transcription	Stomach Mucosa	stomach
9	chr2:32520600-32541800	Weak transcription	Brain Substantia Nigra	brain
10	chr2:32521000-32554600	Weak transcription	Ovary	ovary
11	chr2:32521800-32552400	Weak transcription	Fetal Kidney	kidney
12	chr2:32523400-32547200	Weak transcription	NH-A	brain
13	chr2:32525400-32548600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:32526600-32541800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:32526800-32548600	Weak transcription	Fetal Brain Female	brain
16	chr2:32528400-32544400	Weak transcription	NHDF-Ad	bronchial
17	chr2:32528600-32556400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:32528800-32538400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:32528800-32538400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:32528800-32539400	Weak transcription	Pancreas	Pancrea
21	chr2:32528800-32547200	Weak transcription	Lung	lung
22	chr2:32528800-32547400	Weak transcription	Aorta	Aorta
23	chr2:32528800-32548000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:32528800-32548400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:32528800-32555000	Weak transcription	Gastric	stomach
26	chr2:32528800-32555800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:32528800-32555800	Weak transcription	Spleen	Spleen
28	chr2:32528800-32560800	Weak transcription	Right Ventricle	heart
29	chr2:32528800-32566200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:32529000-32554000	Weak transcription	Fetal Heart	heart
31	chr2:32529200-32550000	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:32529800-32565600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:32532200-32545200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:32532200-32553000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:32532400-32538000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:32532400-32539000	Weak transcription	A549	lung
37	chr2:32532400-32539600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:32532400-32541400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:32532400-32548400	Weak transcription	Brain Anterior Caudate	brain
40	chr2:32532600-32541800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:32532600-32544400	Weak transcription	HepG2	liver
42	chr2:32532600-32548400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:32532600-32550400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:32532800-32542000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:32532800-32547200	Weak transcription	Dnd41	blood
46	chr2:32532800-32547200	Weak transcription	Hela-S3	cervix
47	chr2:32532800-32550000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:32532800-32550400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:32532800-32559800	Weak transcription	HSMM	muscle
50	chr2:32533000-32541400	Weak transcription	Rectal Smooth Muscle	rectum

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