Variant report

Variant	rs67075643
Chromosome Location	chr12:121410168-121410169
allele	C/T
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	RAD21	chr12:121408943-121410176	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr12:121410071-121411673	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121410040..121412493-chr12:121417620..121420402,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf43-1	chr12:121408046-121410443	NONHSAT031257

Variant related genes	Relation type
ENSG00000272214	TF binding region
ENSG00000241388	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12425790	0.87[AMR][1000 genomes]
rs12427353	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34565150	0.83[AMR][1000 genomes]
rs55834942	0.83[AMR][1000 genomes]
rs55879344	0.83[AMR][1000 genomes]
rs61953352	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv3357747	chr12:121405281-121427388	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121400600-121416000	Weak transcription	Small Intestine	intestine
2	chr12:121403800-121411000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:121405200-121415400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:121406600-121410800	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr12:121406600-121412400	Genic enhancers	Liver	Liver
6	chr12:121407400-121410800	Weak transcription	Fetal Stomach	stomach
7	chr12:121408000-121414200	Genic enhancers	Fetal Intestine Small	intestine
8	chr12:121408200-121417800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:121408400-121411000	Weak transcription	Colonic Mucosa	Colon
10	chr12:121408400-121415400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:121408800-121410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:121409000-121410200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr12:121409000-121412400	Genic enhancers	Fetal Intestine Large	intestine
14	chr12:121409200-121410600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:121409200-121412200	Enhancers	Stomach Mucosa	stomach
16	chr12:121409200-121412400	Genic enhancers	HepG2	liver
17	chr12:121409400-121410200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:121409400-121410400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:121409400-121410800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:121409400-121411200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:121409400-121411200	Enhancers	K562	blood
22	chr12:121409400-121411400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:121409600-121410600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:121409600-121410600	Weak transcription	Pancreas	Pancrea
25	chr12:121409600-121415000	Weak transcription	Esophagus	oesophagus
26	chr12:121409600-121418400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:121409600-121422200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:121409800-121410600	Weak transcription	Gastric	stomach
29	chr12:121409800-121410600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:121409800-121410800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:121409800-121410800	Weak transcription	Placenta	Placenta
32	chr12:121410000-121410400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:121410000-121410600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:121410000-121410600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:121410000-121410800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:121410000-121410800	Weak transcription	A549	lung
37	chr12:121410000-121411000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:121410000-121411000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:121410000-121415400	Weak transcription	Fetal Kidney	kidney
40	chr12:121410000-121415400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:121410000-121418600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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