Variant report

Variant	rs12405426
Chromosome Location	chr1:94343624-94343625
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:94343565-94343680	HepG2	liver:	n/a	n/a
2	MXI1	chr1:94343607-94345758	SK-N-SH	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94336837..94340766-chr1:94341847..94346212,6	K562	blood:
2	chr1:94332079..94335914-chr1:94341026..94344306,4	K562	blood:
3	chr1:94343199..94347658-chr1:94372955..94376562,9	MCF-7	breast:
4	chr1:93809215..93811545-chr1:94343496..94345279,2	K562	blood:
5	chr1:94311992..94315197-chr1:94341852..94346150,3	MCF-7	breast:
6	chr1:94312180..94314378-chr1:94343204..94344804,3	K562	blood:
7	chr1:94342014..94348814-chr1:94369991..94376733,14	K562	blood:
8	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
9	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:

No data

Variant related genes	Relation type
DNTTIP2	TF binding region
ENSG00000117505	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000067334	Chromatin interaction

rs_ID	r²[population]
rs10158331	1.00[EUR][1000 genomes]
rs12401916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17110570	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4393168	0.84[AMR][1000 genomes]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94338400-94343800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:94340400-94343800	Weak transcription	Aorta	Aorta
3	chr1:94340400-94344000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:94340600-94344000	Weak transcription	Esophagus	oesophagus
5	chr1:94340600-94344000	Weak transcription	Ovary	ovary
6	chr1:94341600-94343800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
7	chr1:94341800-94344600	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr1:94342400-94343800	Genic enhancers	Primary T cells from cord blood	blood
9	chr1:94342400-94343800	Weak transcription	Right Atrium	heart
10	chr1:94342600-94343800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:94342600-94343800	Enhancers	Fetal Brain Male	brain
12	chr1:94342800-94343800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:94342800-94345800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:94343000-94343800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:94343000-94344000	Enhancers	Small Intestine	intestine
16	chr1:94343000-94345000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:94343200-94343800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:94343200-94343800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:94343200-94343800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:94343200-94343800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:94343200-94343800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:94343200-94343800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:94343200-94343800	Enhancers	Brain Substantia Nigra	brain
24	chr1:94343200-94343800	Weak transcription	Fetal Kidney	kidney
25	chr1:94343200-94343800	Enhancers	Fetal Lung	lung
26	chr1:94343200-94344000	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:94343200-94344000	Enhancers	Stomach Mucosa	stomach
28	chr1:94343200-94344000	Enhancers	Spleen	Spleen
29	chr1:94343400-94343800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr1:94343400-94343800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:94343400-94343800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr1:94343400-94343800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr1:94343400-94343800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:94343400-94343800	Enhancers	Brain Angular Gyrus	brain
35	chr1:94343400-94343800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr1:94343400-94343800	Enhancers	Colon Smooth Muscle	Colon
37	chr1:94343400-94343800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr1:94343400-94343800	Enhancers	Fetal Heart	heart
39	chr1:94343400-94343800	Enhancers	Fetal Muscle Leg	muscle
40	chr1:94343400-94343800	Genic enhancers	Placenta	Placenta
41	chr1:94343400-94343800	Enhancers	Left Ventricle	heart
42	chr1:94343400-94343800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr1:94343400-94343800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:94343400-94343800	Flanking Active TSS	HMEC	breast
45	chr1:94343400-94343800	Flanking Active TSS	Osteobl	bone
46	chr1:94343400-94344000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr1:94343400-94344000	Enhancers	Pancreas	Pancrea
48	chr1:94343400-94344000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr1:94343400-94344000	Flanking Active TSS	Hela-S3	cervix
50	chr1:94343400-94344000	Flanking Active TSS	NHEK	skin

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