Variant report

Variant	rs74084416
Chromosome Location	chr12:31470230-31470231
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31450442..31457255-chr12:31469614..31474253,6	K562	blood:
2	chr12:31465121..31468387-chr12:31468949..31472187,3	MCF-7	breast:
3	chr12:31462575..31464731-chr12:31467924..31470498,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139146	Chromatin interaction
ENSG00000238661	Chromatin interaction
ENSG00000256176	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12316392	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2892637	1.00[AMR][1000 genomes]
rs61462460	1.00[AMR][1000 genomes]
rs7973507	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2758303	chr12:31125467-31491104	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	esv2759890	chr12:31125467-31491104	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv428276	chr12:31125467-31491104	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	esv2751043	chr12:31148662-31499671	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	esv2751053	chr12:31225710-31484881	Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	esv2754121	chr12:31225710-31493435	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	esv2751054	chr12:31225710-31513718	Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	esv35092	chr12:31239600-31484833	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	esv2751071	chr12:31239600-31493435	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	esv2751072	chr12:31239600-31499671	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
14	nsv430477	chr12:31239600-31513718	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
15	esv2751077	chr12:31278031-31499671	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
16	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription 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	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31449800-31472800	Weak transcription	Pancreas	Pancrea
2	chr12:31450000-31471000	Weak transcription	Esophagus	oesophagus
3	chr12:31451000-31470400	Weak transcription	Colonic Mucosa	Colon
4	chr12:31457600-31475800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:31458000-31470600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:31458000-31471000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:31458200-31470400	Weak transcription	Liver	Liver
8	chr12:31458200-31470600	Weak transcription	HSMMtube	muscle
9	chr12:31458400-31470400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:31458400-31470400	Weak transcription	Fetal Stomach	stomach
11	chr12:31458400-31470600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:31460400-31476000	Weak transcription	Lung	lung
13	chr12:31460600-31471800	Weak transcription	Gastric	stomach
14	chr12:31462400-31470800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:31462600-31470400	Weak transcription	Fetal Brain Female	brain
16	chr12:31463200-31472200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:31464600-31472200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:31467600-31470600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:31467800-31470400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:31467800-31473200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:31467800-31475800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:31468400-31470600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:31468400-31475600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:31468600-31470400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr12:31468600-31475600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:31469000-31470600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:31469200-31470400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:31469400-31470400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:31469400-31470600	Enhancers	Hela-S3	cervix
30	chr12:31469600-31470600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr12:31469800-31470400	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr12:31469800-31470400	Enhancers	Fetal Intestine Large	intestine
33	chr12:31469800-31470400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr12:31469800-31470400	Flanking Active TSS	A549	lung
35	chr12:31469800-31470400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr12:31469800-31470600	Enhancers	HepG2	liver
37	chr12:31469800-31470600	Enhancers	HSMM	muscle
38	chr12:31469800-31471200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:31469800-31471200	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr12:31469800-31471200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr12:31469800-31471200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:31469800-31471200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:31469800-31471400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:31469800-31471600	Active TSS	GM12878-XiMat	blood
45	chr12:31469800-31471800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:31469800-31472200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr12:31470000-31470400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:31470000-31470400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:31470000-31470400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:31470000-31470400	Active TSS	Primary hematopoietic stem cells short term culture	blood

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