Variant report

Variant	rs2235970
Chromosome Location	chr1:94345137-94345138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:154)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:154 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:94344014-94345297	GM12878	blood:	n/a	n/a
2	IRF1	chr1:94343950-94345312	K562	blood:	n/a	n/a
3	ZMIZ1	chr1:94343968-94345275	K562	blood:	n/a	n/a
4	EBF1	chr1:94345137-94345173	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:94343975-94345608	K562	blood:	n/a	n/a
6	TCF12	chr1:94344326-94345176	ECC-1	luminal epithelium:	n/a	n/a
7	MBD4	chr1:94344533-94345171	HepG2	liver:	n/a	n/a
8	MYC	chr1:94344013-94345344	K562	blood:	n/a	n/a
9	SRF	chr1:94344363-94345249	HCT-116	colon:	n/a	n/a
10	POLR2A	chr1:94343985-94345395	GM12892	blood:	n/a	n/a
11	GABPA	chr1:94344048-94345171	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr1:94344153-94345721	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr1:94344262-94345209	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr1:94344000-94345721	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr1:94343945-94345186	HCT-116	colon:	n/a	n/a
16	POLR2A	chr1:94344078-94345860	SK-N-MC	brain:	n/a	n/a
17	BCL3	chr1:94343887-94345861	A549	lung:	n/a	n/a
18	TAF1	chr1:94344025-94345225	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr1:94344295-94345257	U87	brain:	n/a	n/a
20	POLR2A	chr1:94343888-94345203	HCT-116	colon:	n/a	n/a
21	FOXM1	chr1:94344394-94345163	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:94344125-94345540	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr1:94343952-94345262	GM12892	blood:	n/a	n/a
24	TAF1	chr1:94344376-94345176	A549	lung:	n/a	n/a
25	POLR2A	chr1:94344390-94345459	MCF-7	breast:	n/a	n/a
26	CREB1	chr1:94344267-94345181	HepG2	liver:	n/a	n/a
27	PML	chr1:94344397-94345175	K562	blood:	n/a	n/a
28	CREB1	chr1:94343840-94345171	K562	blood:	n/a	n/a
29	POLR2A	chr1:94343914-94345360	K562	blood:	n/a	n/a
30	TAF1	chr1:94344404-94345205	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:94344024-94345148	GM18951	blood:	n/a	n/a
32	TAF1	chr1:94344334-94345268	ECC-1	luminal epithelium:	n/a	n/a
33	GABPA	chr1:94344021-94345184	A549	lung:	n/a	n/a
34	REST	chr1:94344382-94345610	A549	lung:	n/a	n/a
35	POLR2A	chr1:94344025-94345752	GM12891	blood:	n/a	n/a
36	ZNF384	chr1:94343994-94345141	K562	blood:	n/a	n/a
37	BCLAF1	chr1:94344491-94345166	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:94344157-94346337	HepG2	liver:	n/a	n/a
39	ZBTB33	chr1:94344254-94345223	A549	lung:	n/a	chr1:94344801-94344816
40	GABPA	chr1:94344303-94345157	HL-60	blood:	n/a	n/a
41	TBP	chr1:94344485-94345153	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr1:94344410-94345302	U87	brain:	n/a	n/a
43	HCFC1	chr1:94343782-94345845	Hela-S3	cervix:	n/a	n/a
44	ZBTB33	chr1:94344288-94345260	SK-N-SH	brain:	n/a	chr1:94344801-94344816
45	MXI1	chr1:94343681-94345300	IMR90	lung:	n/a	n/a
46	POLR2A	chr1:94344035-94345141	K562	blood:	n/a	n/a
47	CHD1	chr1:94344191-94345344	H1-hESC	embryonic stem cell:	n/a	n/a
48	JUND	chr1:94343991-94345182	K562	blood:	n/a	n/a
49	NFIC	chr1:94344055-94345317	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:94344448-94345143	MCF-7	breast:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94344587..94345216-chr12:49658330..49658949,2	NB4	blood:
2	chr1:94336837..94340766-chr1:94341847..94346212,6	K562	blood:
3	chr1:94343199..94347658-chr1:94372955..94376562,9	MCF-7	breast:
4	chr1:94337347..94339597-chr1:94344098..94346567,2	MCF-7	breast:
5	chr1:93809215..93811545-chr1:94343496..94345279,2	K562	blood:
6	chr1:94344690..94346304-chr1:94373768..94376372,3	MCF-7	breast:
7	chr1:94311992..94315197-chr1:94341852..94346150,3	MCF-7	breast:
8	chr1:94344758..94345315-chr9:5437663..5438386,2	Hela-S3	cervix:
9	chr1:94344268..94345187-chr8:104426686..104427560,2	NB4	blood:
10	chr1:29507994..29508507-chr1:94344525..94345381,2	Hela-S3	cervix:
11	chr1:94344248..94345187-chr20:44044733..44045585,2	Hela-S3	cervix:
12	chr1:94344731..94345342-chr11:61559633..61560383,2	Hela-S3	cervix:
13	chr1:94344173..94346291-chr1:94372636..94375124,3	K562	blood:
14	chr1:94342014..94348814-chr1:94369991..94376733,14	K562	blood:
15	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
16	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:

No data

Variant related genes	Relation type
DNTTIP2	TF binding region
ENSG00000134825	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000107020	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000168496	Chromatin interaction
ENSG00000116350	Chromatin interaction
ENSG00000124155	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000207601	Chromatin interaction
ENSG00000117505	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1884019	0.84[JPT][hapmap]
rs2747042	0.84[JPT][hapmap]
rs3789457	0.84[JPT][hapmap]
rs6660210	0.84[JPT][hapmap]
rs7523787	0.84[JPT][hapmap]
rs7552293	0.84[JPT][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2235970	DNTTIP2	cis	cerebellum	SCAN
rs2235970	SLC44A3	cis	parietal	SCAN
rs2235970	GCLM	cis	parietal	SCAN
rs2235970	RP11-488P3.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94342800-94345800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:94343400-94345400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:94343400-94345400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:94343400-94345400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:94343400-94345400	Active TSS	Right Ventricle	heart
6	chr1:94343400-94345600	Active TSS	Psoas Muscle	Psoas
7	chr1:94343400-94345800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:94343400-94345800	Active TSS	A549	lung
9	chr1:94343600-94345200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:94343600-94345200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:94343600-94345200	Active TSS	Fetal Brain Female	brain
12	chr1:94343600-94345200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:94343600-94345400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:94343600-94345400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:94343600-94345400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:94343600-94345400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr1:94343600-94345400	Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:94343600-94345400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:94343600-94345400	Active TSS	Colonic Mucosa	Colon
20	chr1:94343600-94345400	Active TSS	K562	blood
21	chr1:94343600-94345600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:94343600-94345600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:94343800-94345200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:94343800-94345200	Active TSS	Brain Substantia Nigra	brain
25	chr1:94343800-94345200	Active TSS	HSMM	muscle
26	chr1:94343800-94345400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:94343800-94345400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:94343800-94345400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:94343800-94345400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:94343800-94345400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:94343800-94345400	Active TSS	Aorta	Aorta
32	chr1:94343800-94345400	Active TSS	Brain Anterior Caudate	brain
33	chr1:94343800-94345400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr1:94343800-94345400	Active TSS	Fetal Intestine Small	intestine
35	chr1:94343800-94345400	Active TSS	Fetal Muscle Leg	muscle
36	chr1:94343800-94345400	Active TSS	NHDF-Ad	bronchial
37	chr1:94343800-94345400	Active TSS	NHLF	lung
38	chr1:94343800-94345400	Active TSS	Osteobl	bone
39	chr1:94343800-94345600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr1:94343800-94345600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:94343800-94345600	Active TSS	Brain Angular Gyrus	brain
42	chr1:94343800-94345600	Active TSS	Fetal Intestine Large	intestine
43	chr1:94343800-94345600	Active TSS	Fetal Kidney	kidney
44	chr1:94343800-94345600	Active TSS	Right Atrium	heart
45	chr1:94343800-94345600	Active TSS	Stomach Smooth Muscle	stomach
46	chr1:94343800-94345600	Active TSS	GM12878-XiMat	blood
47	chr1:94343800-94345600	Active TSS	HMEC	breast
48	chr1:94343800-94345800	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr1:94343800-94345800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:94344000-94345200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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