Variant report

Variant	rs74085202
Chromosome Location	chr12:31881260-31881261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31878745..31882142-chr12:32111934..32114509,3	K562	blood:
2	chr11:62609120..62609942-chr12:31881240..31881895,2	Hela-S3	cervix:
3	chr12:31881018..31881659-chr15:93443139..93444027,3	Hela-S3	cervix:
4	chr12:31880642..31885296-chr12:32110658..32113618,5	K562	blood:
5	chr12:31881243..31883910-chr12:32111522..32113326,3	MCF-7	breast:
6	chr12:31880708..31883036-chr12:32258362..32261321,3	K562	blood:
7	chr12:31880350..31888706-chr12:31898122..31903847,15	K562	blood:
8	chr12:31866987..31869397-chr12:31879938..31881755,2	MCF-7	breast:
9	chr12:31812410..31814271-chr12:31879800..31882059,2	MCF-7	breast:
10	chr12:31879460..31881406-chr12:31997211..31999546,2	K562	blood:
11	chr12:31477737..31479382-chr12:31879609..31881760,2	MCF-7	breast:
12	chr12:31880235..31884620-chr12:31906466..31910642,5	K562	blood:
13	chr12:31477256..31479632-chr12:31880019..31883424,4	K562	blood:
14	chr12:31810441..31812153-chr12:31879361..31881376,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257530	Chromatin interaction
ENSG00000151743	Chromatin interaction
ENSG00000139160	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000256843	Chromatin interaction
ENSG00000139146	Chromatin interaction
ENSG00000151746	Chromatin interaction
ENSG00000173575	Chromatin interaction
ENSG00000223722	Chromatin interaction
ENSG00000174718	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11836705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28414007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55654071	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57003468	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57914624	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60077276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60314175	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60342738	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60685674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60923381	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087504	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087505	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087506	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087511	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087512	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087517	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers 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 target site	24 gene(s)	inside rSNPs	diseases
6	nsv898967	chr12:31858031-31899475	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2422415	chr12:31863360-31930722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
13	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
14	nsv558101	chr12:31876666-32006563	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv1050448	chr12:31877289-31927006	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31872200-31881400	Weak transcription	Esophagus	oesophagus
2	chr12:31872200-31881400	Weak transcription	Gastric	stomach
3	chr12:31875200-31881400	Weak transcription	Spleen	Spleen
4	chr12:31876800-31881400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:31876800-31882200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:31879800-31881400	Weak transcription	Small Intestine	intestine
7	chr12:31880000-31881600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr12:31880000-31881800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:31880400-31881400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:31880600-31881600	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr12:31880600-31881800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr12:31880600-31882800	Active TSS	K562	blood
13	chr12:31880800-31881400	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr12:31880800-31881400	Flanking Active TSS	GM12878-XiMat	blood
15	chr12:31880800-31881600	Flanking Active TSS	Liver	Liver
16	chr12:31880800-31881600	Flanking Active TSS	Dnd41	blood
17	chr12:31880800-31881800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr12:31880800-31881800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:31880800-31882400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr12:31880800-31882400	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr12:31880800-31882400	Active TSS	Stomach Smooth Muscle	stomach
22	chr12:31880800-31882600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:31880800-31882600	Active TSS	Brain Anterior Caudate	brain
24	chr12:31880800-31882800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:31880800-31883000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr12:31881000-31881400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr12:31881000-31881400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:31881000-31881400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr12:31881000-31881400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr12:31881000-31881400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:31881000-31881400	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr12:31881000-31881400	Flanking Active TSS	Fetal Brain Male	brain
33	chr12:31881000-31881400	Flanking Active TSS	Fetal Lung	lung
34	chr12:31881000-31881400	Flanking Active TSS	Fetal Thymus	thymus
35	chr12:31881000-31881400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr12:31881000-31881400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr12:31881000-31881400	Flanking Active TSS	A549	lung
38	chr12:31881000-31881400	Flanking Active TSS	Hela-S3	cervix
39	chr12:31881000-31881400	Flanking Active TSS	HepG2	liver
40	chr12:31881000-31881400	Flanking Active TSS	NHDF-Ad	bronchial
41	chr12:31881000-31881400	Flanking Active TSS	NHEK	skin
42	chr12:31881000-31881600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr12:31881000-31881600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr12:31881000-31881600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr12:31881000-31881600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr12:31881000-31881600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:31881000-31881600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr12:31881000-31881600	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr12:31881000-31881600	Flanking Active TSS	Fetal Heart	heart
50	chr12:31881000-31881600	Flanking Active TSS	Rectal Smooth Muscle	rectum

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