Variant report

Variant	rs7595516
Chromosome Location	chr2:231277267-231277268
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	CEBPB	chr2:231277131-231277450	A549	lung:	n/a	chr2:231277289-231277300
2	MAX	chr2:231277256-231277505	NB4	blood:	n/a	n/a
3	CEBPB	chr2:231277110-231277478	HepG2	liver:	n/a	chr2:231277289-231277300
4	POLR2A	chr2:231276073-231277284	GM19193	blood:	n/a	n/a
5	POLR2A	chr2:231276123-231277357	NB4	blood:	n/a	n/a
6	POLR2A	chr2:231276045-231277287	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr2:231277238-231277363	HepG2	liver:	n/a	chr2:231277289-231277300
8	ELF1	chr2:231276569-231277283	GM12878	blood:	n/a	chr2:231276668-231276677 chr2:231277005-231277018
9	CEBPB	chr2:231277136-231277465	Hela-S3	cervix:	n/a	chr2:231277289-231277300
10	CEBPB	chr2:231277105-231277445	K562	blood:	n/a	chr2:231277289-231277300
11	MTA3	chr2:231275681-231277426	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:231275900-231277445	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:231276297..231278950-chr2:231279090..231280823,2	MCF-7	breast:
2	chr2:231269734..231271710-chr2:231274995..231278115,3	K562	blood:
3	chr2:231276390..231278062-chr2:231285132..231287454,2	K562	blood:
4	chr2:231276236..231278325-chr2:231279653..231283011,3	K562	blood:

Variant related genes	Relation type
SP100	TF binding region
ENSG00000067066	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60721372	1.00[AMR][1000 genomes]
rs73104214	1.00[AMR][1000 genomes]
rs73104222	1.00[AMR][1000 genomes]
rs73104245	1.00[AMR][1000 genomes]
rs73104262	1.00[AMR][1000 genomes]
rs73110321	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2751844	chr2:231179495-231280495	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv875946	chr2:231184106-231277567	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875947	chr2:231190446-231281286	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv521344	chr2:231267925-231281286	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv584671	chr2:231273229-231284556	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231275600-231277400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:231276000-231277400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:231276000-231277400	Active TSS	Brain Cingulate Gyrus	brain
4	chr2:231276000-231277600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr2:231276000-231277600	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:231276200-231277400	Active TSS	Muscle Satellite Cultured Cells	--
7	chr2:231276200-231277400	Active TSS	Brain Angular Gyrus	brain
8	chr2:231276200-231277400	Active TSS	Colonic Mucosa	Colon
9	chr2:231276200-231277800	Active TSS	Hela-S3	cervix
10	chr2:231276400-231277400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:231276400-231277600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr2:231276800-231277400	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr2:231276800-231277400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr2:231276800-231277400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr2:231276800-231277400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr2:231276800-231277400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:231276800-231277400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:231276800-231277400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:231276800-231277400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr2:231276800-231277400	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr2:231276800-231277400	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr2:231276800-231277400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr2:231276800-231277400	Flanking Active TSS	Dnd41	blood
24	chr2:231276800-231277400	Flanking Active TSS	NHLF	lung
25	chr2:231276800-231277600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:231276800-231278000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr2:231277000-231277400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:231277000-231277400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:231277000-231277400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr2:231277000-231277400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr2:231277000-231277400	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr2:231277000-231277400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:231277000-231277400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr2:231277000-231277400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr2:231277000-231277400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:231277000-231277400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr2:231277000-231277400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:231277000-231277400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr2:231277000-231277400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:231277000-231277400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:231277000-231277400	Flanking Active TSS	Liver	Liver
42	chr2:231277000-231277400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr2:231277000-231277400	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr2:231277000-231277400	Flanking Active TSS	GM12878-XiMat	blood
45	chr2:231277000-231277400	Flanking Active TSS	NHEK	skin
46	chr2:231277000-231277600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr2:231277000-231277600	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr2:231277000-231277800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr2:231277000-231278000	Enhancers	Spleen	Spleen
50	chr2:231277000-231278200	Enhancers	Fetal Heart	heart

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