Variant report

Variant	rs1805688
Chromosome Location	chr12:9220100-9220101
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	POLR2A	chr12:9216895-9230988	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:9216389-9221070	HepG2	liver:	n/a	n/a
3	MYBL2	chr12:9218472-9220191	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:9217415-9220251	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:9216589-9220417	HepG2	liver:	n/a	n/a
6	MBD4	chr12:9218464-9220244	HepG2	liver:	n/a	n/a
7	NFIC	chr12:9218583-9220189	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:9216161-9220988	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9218102..9220634-chr12:9230847..9232385,2	MCF-7	breast:
2	chr12:9218454..9221005-chr12:9232709..9234704,2	K562	blood:

Variant related genes	Relation type
LINC00612	TF binding region
ENSG00000175899	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1805683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805692	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805710	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805717	1.00[AMR][1000 genomes]
rs3026234	0.80[AFR][1000 genomes]
rs73236285	1.00[AMR][1000 genomes]
rs73238262	1.00[AMR][1000 genomes]
rs73238276	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9217400-9223400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:9217600-9223200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:9217800-9220400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:9217800-9225000	Weak transcription	Small Intestine	intestine
5	chr12:9217800-9234200	Weak transcription	Primary T cells from cord blood	blood
6	chr12:9218000-9226800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:9218000-9234000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:9218200-9223000	Weak transcription	Aorta	Aorta
9	chr12:9218200-9223200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:9218200-9224200	Weak transcription	Ovary	ovary
11	chr12:9218200-9232200	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:9218200-9236200	Weak transcription	Psoas Muscle	Psoas
13	chr12:9218200-9266200	Weak transcription	Fetal Kidney	kidney
14	chr12:9218400-9220200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:9218400-9220200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:9218400-9220400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:9218400-9223800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:9218400-9224200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:9218400-9224200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:9218400-9224600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:9218400-9228600	Weak transcription	Brain Anterior Caudate	brain
22	chr12:9218400-9230800	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:9218400-9231000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:9218400-9234400	Weak transcription	Right Atrium	heart
25	chr12:9218400-9236600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:9218400-9236600	Weak transcription	Brain Substantia Nigra	brain
27	chr12:9218400-9237200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:9218600-9220400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:9218600-9220600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:9218600-9225000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:9218600-9229400	Weak transcription	Colonic Mucosa	Colon
32	chr12:9218600-9235600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:9218600-9235800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:9218600-9236400	Weak transcription	Brain Angular Gyrus	brain
35	chr12:9218800-9220800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:9218800-9225000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:9218800-9230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:9218800-9236200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:9218800-9236200	Weak transcription	Fetal Heart	heart
40	chr12:9219000-9220200	Weak transcription	Left Ventricle	heart
41	chr12:9219000-9220600	Weak transcription	Placenta	Placenta
42	chr12:9219000-9223000	Weak transcription	Spleen	Spleen
43	chr12:9219000-9224000	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:9219000-9233200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:9219200-9220400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:9219200-9223600	Weak transcription	Fetal Stomach	stomach
47	chr12:9219200-9224200	Weak transcription	Right Ventricle	heart
48	chr12:9219200-9225000	Weak transcription	Lung	lung
49	chr12:9219200-9226400	Weak transcription	Pancreas	Pancrea
50	chr12:9219200-9229200	Weak transcription	Gastric	stomach

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