Variant report

Variant	rs1544683
Chromosome Location	chr12:12492825-12492826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12492591..12496628-chr12:12508387..12511489,3	K562	blood:
2	chr12:12492591..12498034-chr12:12508387..12511659,4	K562	blood:

Variant related genes	Relation type
ENSG00000165714	Chromatin interaction
ENSG00000205791	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11054828	1.00[ASN][1000 genomes]
rs11054831	1.00[ASN][1000 genomes]
rs11054833	0.87[EUR][1000 genomes]
rs11054842	0.90[ASN][1000 genomes]
rs11054843	0.91[ASN][1000 genomes]
rs11054846	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11054849	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12819549	0.86[EUR][1000 genomes]
rs16907939	0.93[ASN][1000 genomes]
rs34584825	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34635703	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35165703	0.89[EUR][1000 genomes]
rs35737962	0.91[EUR][1000 genomes]
rs36058772	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71433474	0.86[EUR][1000 genomes]
rs71457145	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279320	0.80[EUR][1000 genomes]
rs7969816	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7977450	0.80[EUR][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898807	chr12:12448948-12502001	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv898809	chr12:12488067-12509314	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12473200-12501600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:12473600-12493200	Weak transcription	Fetal Brain Female	brain
3	chr12:12473600-12502000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:12473800-12502400	Weak transcription	NHLF	lung
5	chr12:12480400-12502400	Weak transcription	Right Ventricle	heart
6	chr12:12481200-12495400	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:12481200-12502200	Weak transcription	Fetal Heart	heart
8	chr12:12481800-12502400	Weak transcription	Psoas Muscle	Psoas
9	chr12:12482400-12502200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:12483600-12502800	Weak transcription	Spleen	Spleen
11	chr12:12485400-12500200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:12485400-12502400	Weak transcription	Esophagus	oesophagus
13	chr12:12485400-12502800	Weak transcription	Gastric	stomach
14	chr12:12485400-12502800	Weak transcription	Small Intestine	intestine
15	chr12:12487200-12502600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:12487400-12502200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:12487400-12502200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:12487600-12502200	Weak transcription	Colonic Mucosa	Colon
19	chr12:12488000-12493000	Weak transcription	Brain Substantia Nigra	brain
20	chr12:12488000-12493200	Weak transcription	Adipose Nuclei	Adipose
21	chr12:12488000-12493800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:12488000-12494000	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:12488000-12495000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:12488000-12495800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:12488000-12495800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:12488000-12502000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:12488200-12495800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:12489200-12497600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:12489600-12502400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:12489600-12502600	Weak transcription	Placenta	Placenta
31	chr12:12489800-12494600	Weak transcription	Liver	Liver
32	chr12:12489800-12502400	Weak transcription	Pancreas	Pancrea
33	chr12:12490800-12502400	Weak transcription	Brain Germinal Matrix	brain
34	chr12:12491200-12496400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr12:12491200-12496400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr12:12491400-12493200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:12491600-12493200	Strong transcription	Fetal Intestine Small	intestine
38	chr12:12491600-12495200	Strong transcription	Fetal Stomach	stomach
39	chr12:12491800-12494600	Strong transcription	Brain Angular Gyrus	brain
40	chr12:12491800-12495400	Strong transcription	Ovary	ovary
41	chr12:12492000-12497200	Weak transcription	Stomach Mucosa	stomach
42	chr12:12492000-12502400	Weak transcription	Aorta	Aorta
43	chr12:12492200-12493800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:12492200-12494400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:12492200-12494400	Weak transcription	Left Ventricle	heart
46	chr12:12492200-12502200	Weak transcription	Primary B cells from cord blood	blood
47	chr12:12492200-12502200	Weak transcription	Primary T cells from cord blood	blood
48	chr12:12492200-12502600	Weak transcription	Lung	lung
49	chr12:12492200-12502800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:12492400-12502000	Weak transcription	HUVEC	blood vessel

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