Variant report

Variant	rs41292671
Chromosome Location	chr1:94345267-94345268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

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	POLR2A	chr1:94343975-94345608	K562	blood:	n/a	n/a
5	MYC	chr1:94344013-94345344	K562	blood:	n/a	n/a
6	POLR2A	chr1:94343985-94345395	GM12892	blood:	n/a	n/a
7	POLR2A	chr1:94344153-94345721	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr1:94344000-94345721	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:94344078-94345860	SK-N-MC	brain:	n/a	n/a
10	BCL3	chr1:94343887-94345861	A549	lung:	n/a	n/a
11	POLR2A	chr1:94344125-94345540	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr1:94344390-94345459	MCF-7	breast:	n/a	n/a
13	POLR2A	chr1:94343914-94345360	K562	blood:	n/a	n/a
14	TAF1	chr1:94344334-94345268	ECC-1	luminal epithelium:	n/a	n/a
15	REST	chr1:94344382-94345610	A549	lung:	n/a	n/a
16	POLR2A	chr1:94344025-94345752	GM12891	blood:	n/a	n/a
17	POLR2A	chr1:94344157-94346337	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:94344410-94345302	U87	brain:	n/a	n/a
19	HCFC1	chr1:94343782-94345845	Hela-S3	cervix:	n/a	n/a
20	MXI1	chr1:94343681-94345300	IMR90	lung:	n/a	n/a
21	CHD1	chr1:94344191-94345344	H1-hESC	embryonic stem cell:	n/a	n/a
22	NFIC	chr1:94344055-94345317	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:94344037-94345346	GM19099	blood:	n/a	n/a
24	POLR2A	chr1:94344028-94345736	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:94343867-94345668	K562	blood:	n/a	n/a
26	TBP	chr1:94344549-94345481	GM12878	blood:	n/a	n/a
27	CHD2	chr1:94344444-94345399	H1-hESC	embryonic stem cell:	n/a	n/a
28	TCF12	chr1:94343997-94345478	A549	lung:	n/a	n/a
29	POLR2A	chr1:94343979-94345315	K562	blood:	n/a	n/a
30	POLR2A	chr1:94343787-94345496	K562	blood:	n/a	n/a
31	IRF1	chr1:94344030-94345496	K562	blood:	n/a	n/a
32	POLR2A	chr1:94344379-94345405	PANC-1	pancreas:	n/a	n/a
33	MTA3	chr1:94343934-94345477	GM12878	blood:	n/a	n/a
34	MAZ	chr1:94344045-94345393	K562	blood:	n/a	n/a
35	SIN3AK20	chr1:94344457-94345310	MCF-7	breast:	n/a	n/a
36	POLR2A	chr1:94344352-94345298	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr1:94344295-94345568	U87	brain:	n/a	n/a
38	POLR2A	chr1:94344428-94345409	SK-N-MC	brain:	n/a	n/a
39	MXI1	chr1:94343607-94345758	SK-N-SH	brain:	n/a	n/a
40	ELK1	chr1:94344529-94345588	K562	blood:	n/a	n/a
41	CHD2	chr1:94344132-94345455	K562	blood:	n/a	n/a
42	POLR2A	chr1:94344282-94345311	NB4	blood:	n/a	n/a
43	PML	chr1:94343918-94345325	GM12878	blood:	n/a	n/a
44	TBP	chr1:94343983-94345320	K562	blood:	n/a	n/a
45	POLR2A	chr1:94343911-94345636	IMR90	lung:	n/a	n/a
46	POLR2A	chr1:94344502-94345467	HCT-116	colon:	n/a	n/a
47	POLR2A	chr1:94343945-94345667	HepG2	liver:	n/a	n/a
48	GATA3	chr1:94344205-94345306	A549	lung:	n/a	n/a
49	POLR2A	chr1:94343685-94350802	A549	lung:	n/a	n/a
50	POLR2A	chr1:94344063-94345687	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10874804	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874805	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165027	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165028	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165029	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165032	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805379	1.00[ASN][1000 genomes]
rs11808380	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059028	1.00[ASN][1000 genomes]
rs12062272	1.00[ASN][1000 genomes]
rs12062925	1.00[ASN][1000 genomes]
rs12069476	1.00[ASN][1000 genomes]
rs12076074	1.00[ASN][1000 genomes]
rs12078134	1.00[ASN][1000 genomes]
rs12080386	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081399	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090038	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090230	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094966	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110374	1.00[ASN][1000 genomes]
rs17110608	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110611	0.83[EUR][1000 genomes]
rs2234729	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075342	1.00[ASN][1000 genomes]
rs41292667	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292669	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292673	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4542218	1.00[ASN][1000 genomes]
rs57136451	1.00[ASN][1000 genomes]
rs58790885	1.00[ASN][1000 genomes]
rs59444123	1.00[ASN][1000 genomes]
rs59545065	1.00[ASN][1000 genomes]
rs61750895	1.00[ASN][1000 genomes]
rs6541397	1.00[ASN][1000 genomes]
rs6680755	1.00[ASN][1000 genomes]
rs6686765	1.00[ASN][1000 genomes]
rs6692306	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701957	1.00[ASN][1000 genomes]
rs6702045	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702064	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704348	1.00[ASN][1000 genomes]
rs72965451	1.00[ASN][1000 genomes]
rs72967332	1.00[ASN][1000 genomes]
rs72967387	1.00[ASN][1000 genomes]
rs72969374	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514067	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515991	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525516	1.00[ASN][1000 genomes]
rs7552401	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555872	1.00[ASN][1000 genomes]

No data

Chromatin state (count:120 , 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	chr1:94343600-94345400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:94343600-94345400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:94343600-94345400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:94343600-94345400	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr1:94343600-94345400	Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:94343600-94345400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:94343600-94345400	Active TSS	Colonic Mucosa	Colon
16	chr1:94343600-94345400	Active TSS	K562	blood
17	chr1:94343600-94345600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:94343600-94345600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:94343800-94345400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr1:94343800-94345400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:94343800-94345400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:94343800-94345400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:94343800-94345400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr1:94343800-94345400	Active TSS	Aorta	Aorta
25	chr1:94343800-94345400	Active TSS	Brain Anterior Caudate	brain
26	chr1:94343800-94345400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr1:94343800-94345400	Active TSS	Fetal Intestine Small	intestine
28	chr1:94343800-94345400	Active TSS	Fetal Muscle Leg	muscle
29	chr1:94343800-94345400	Active TSS	NHDF-Ad	bronchial
30	chr1:94343800-94345400	Active TSS	NHLF	lung
31	chr1:94343800-94345400	Active TSS	Osteobl	bone
32	chr1:94343800-94345600	Active TSS	H1 Cell Line	embryonic stem cell
33	chr1:94343800-94345600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:94343800-94345600	Active TSS	Brain Angular Gyrus	brain
35	chr1:94343800-94345600	Active TSS	Fetal Intestine Large	intestine
36	chr1:94343800-94345600	Active TSS	Fetal Kidney	kidney
37	chr1:94343800-94345600	Active TSS	Right Atrium	heart
38	chr1:94343800-94345600	Active TSS	Stomach Smooth Muscle	stomach
39	chr1:94343800-94345600	Active TSS	GM12878-XiMat	blood
40	chr1:94343800-94345600	Active TSS	HMEC	breast
41	chr1:94343800-94345800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr1:94343800-94345800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:94344000-94345400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:94344000-94345400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:94344000-94345400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr1:94344000-94345400	Active TSS	Placenta	Placenta
47	chr1:94344000-94345400	Active TSS	Fetal Stomach	stomach
48	chr1:94344000-94345400	Active TSS	Ovary	ovary
49	chr1:94344000-94345400	Active TSS	Placenta Amnion	Placenta Amnion
50	chr1:94344000-94345600	Active TSS	Rectal Mucosa Donor 29	rectum

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