Variant report

Variant	rs72723178
Chromosome Location	chr1:94343876-94343877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr1:94343840-94345171	K562	blood:	n/a	n/a
2	HCFC1	chr1:94343782-94345845	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr1:94343717-94343946	A549	lung:	n/a	n/a
4	MXI1	chr1:94343681-94345300	IMR90	lung:	n/a	n/a
5	POLR2A	chr1:94343867-94345668	K562	blood:	n/a	n/a
6	POLR2A	chr1:94343787-94345496	K562	blood:	n/a	n/a
7	MXI1	chr1:94343607-94345758	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr1:94343685-94350802	A549	lung:	n/a	n/a
9	POLR2A	chr1:94343745-94345118	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:94343810-94352873	K562	blood:	n/a	n/a
11	CEBPB	chr1:94343777-94343958	K562	blood:	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
ENSG00000211575	Chromatin interaction
ENSG00000117505	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10489605	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10874795	0.81[ASN][1000 genomes]
rs11164994	0.90[EUR][1000 genomes]
rs11165019	0.81[ASN][1000 genomes]
rs12079584	0.81[ASN][1000 genomes]
rs12239830	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17100397	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17304770	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17878271	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17878294	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17881810	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17884788	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17885151	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17886352	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877605	0.82[EUR][1000 genomes]
rs2223908	0.92[EUR][1000 genomes]
rs3761913	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57870303	0.90[EUR][1000 genomes]
rs61425457	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61781049	0.88[EUR][1000 genomes]
rs61781051	0.90[EUR][1000 genomes]
rs61781053	0.92[EUR][1000 genomes]
rs61781054	0.90[EUR][1000 genomes]
rs61781055	0.90[EUR][1000 genomes]
rs61781056	0.90[EUR][1000 genomes]
rs61781057	0.92[EUR][1000 genomes]
rs61782162	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782163	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782164	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782165	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782167	0.86[ASN][1000 genomes]
rs61782398	0.90[EUR][1000 genomes]
rs61782399	0.90[EUR][1000 genomes]
rs61782400	0.92[EUR][1000 genomes]
rs61782403	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782404	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782405	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782407	0.85[AFR][1000 genomes]
rs61782409	0.86[AFR][1000 genomes]
rs61782410	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782413	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782449	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61782450	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782451	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61782458	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782459	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674149	0.85[EUR][1000 genomes]
rs72723114	0.90[EUR][1000 genomes]
rs72723118	0.92[EUR][1000 genomes]
rs72723125	0.92[EUR][1000 genomes]
rs72723138	0.90[EUR][1000 genomes]
rs72723157	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72723165	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72723169	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72723192	0.94[ASN][1000 genomes]
rs72967397	0.81[ASN][1000 genomes]
rs7523682	0.88[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94340400-94344000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:94340600-94344000	Weak transcription	Esophagus	oesophagus
3	chr1:94340600-94344000	Weak transcription	Ovary	ovary
4	chr1:94341800-94344600	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr1:94342800-94345800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:94343000-94344000	Enhancers	Small Intestine	intestine
7	chr1:94343000-94345000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:94343200-94344000	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:94343200-94344000	Enhancers	Stomach Mucosa	stomach
10	chr1:94343200-94344000	Enhancers	Spleen	Spleen
11	chr1:94343400-94344000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr1:94343400-94344000	Enhancers	Pancreas	Pancrea
13	chr1:94343400-94344000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr1:94343400-94344000	Flanking Active TSS	Hela-S3	cervix
15	chr1:94343400-94344000	Flanking Active TSS	NHEK	skin
16	chr1:94343400-94344200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:94343400-94344200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr1:94343400-94344200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:94343400-94344200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:94343400-94344400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr1:94343400-94344400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:94343400-94345000	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr1:94343400-94345400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr1:94343400-94345400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:94343400-94345400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:94343400-94345400	Active TSS	Right Ventricle	heart
27	chr1:94343400-94345600	Active TSS	Psoas Muscle	Psoas
28	chr1:94343400-94345800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:94343400-94345800	Active TSS	A549	lung
30	chr1:94343600-94344000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:94343600-94344000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:94343600-94344000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:94343600-94344000	Flanking Active TSS	Liver	Liver
34	chr1:94343600-94344000	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr1:94343600-94344000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr1:94343600-94344000	Weak transcription	Gastric	stomach
37	chr1:94343600-94344000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr1:94343600-94344000	Flanking Active TSS	Thymus	Thymus
39	chr1:94343600-94344000	Active TSS	HepG2	liver
40	chr1:94343600-94344200	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr1:94343600-94344200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr1:94343600-94344200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr1:94343600-94344200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:94343600-94344200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr1:94343600-94344200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr1:94343600-94344200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr1:94343600-94344200	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr1:94343600-94344200	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr1:94343600-94344200	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr1:94343600-94344200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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