Variant report

Variant	rs41292665
Chromosome Location	chr1:94344860-94344861
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:504)
CpG islands
(count:122)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	BACH1	chr1:94343990-94345041	K562	blood:	n/a	n/a
5	SIN3AK20	chr1:94344312-94344985	PANC-1	pancreas:	n/a	n/a
6	YY1	chr1:94344365-94345079	GM12878	blood:	n/a	n/a
7	POU2F2	chr1:94344500-94345113	GM12891	blood:	n/a	n/a
8	MBD4	chr1:94344596-94345068	HepG2	liver:	n/a	n/a
9	TAF1	chr1:94344667-94345041	MCF-7	breast:	n/a	n/a
10	YY1	chr1:94344352-94344948	GM12892	blood:	n/a	n/a
11	MYC	chr1:94343998-94344965	K562	blood:	n/a	n/a
12	NFIC	chr1:94344356-94345037	HepG2	liver:	n/a	n/a
13	FOXA1	chr1:94344631-94344926	T-47D	breast:	n/a	n/a
14	IRF4	chr1:94344509-94345076	GM12878	blood:	n/a	n/a
15	TEAD4	chr1:94344645-94345080	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:94343975-94345608	K562	blood:	n/a	n/a
17	NFIC	chr1:94344528-94345130	GM12878	blood:	n/a	n/a
18	RELA	chr1:94344026-94345092	GM18951	blood:	n/a	n/a
19	YY1	chr1:94344324-94345084	GM12892	blood:	n/a	n/a
20	TCF12	chr1:94344326-94345176	ECC-1	luminal epithelium:	n/a	n/a
21	CREB1	chr1:94344486-94345057	ECC-1	luminal epithelium:	n/a	n/a
22	MBD4	chr1:94344533-94345171	HepG2	liver:	n/a	n/a
23	GABPA	chr1:94344499-94344948	K562	blood:	n/a	n/a
24	MYC	chr1:94344013-94345344	K562	blood:	n/a	n/a
25	SIN3AK20	chr1:94344014-94345000	K562	blood:	n/a	n/a
26	ZBTB33	chr1:94344605-94344958	HepG2	liver:	n/a	chr1:94344801-94344816
27	REST	chr1:94344532-94345037	A549	lung:	n/a	n/a
28	SRF	chr1:94344363-94345249	HCT-116	colon:	n/a	n/a
29	TAL1	chr1:94344019-94345062	K562	blood:	n/a	n/a
30	MYC	chr1:94344603-94345091	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr1:94343985-94345395	GM12892	blood:	n/a	n/a
32	GABPA	chr1:94344048-94345171	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr1:94344153-94345721	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr1:94344494-94345061	HepG2	liver:	n/a	n/a
35	POLR2A	chr1:94344262-94345209	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr1:94344400-94345056	A549	lung:	n/a	n/a
37	POLR2A	chr1:94344000-94345721	GM12878	blood:	n/a	n/a
38	PML	chr1:94343980-94345093	K562	blood:	n/a	n/a
39	MAX	chr1:94344330-94345081	SK-N-SH	brain:	n/a	n/a
40	RAD21	chr1:94344799-94344875	HepG2	liver:	n/a	n/a
41	SIN3AK20	chr1:94343945-94345186	HCT-116	colon:	n/a	n/a
42	POLR2A	chr1:94344078-94345860	SK-N-MC	brain:	n/a	n/a
43	PAX5	chr1:94344536-94344952	GM12878	blood:	n/a	n/a
44	CREB1	chr1:94344471-94345005	A549	lung:	n/a	n/a
45	BCL3	chr1:94343887-94345861	A549	lung:	n/a	n/a
46	CREB1	chr1:94344334-94344996	A549	lung:	n/a	n/a
47	TAF1	chr1:94344025-94345225	H1-hESC	embryonic stem cell:	n/a	n/a
48	REST	chr1:94344527-94345000	SK-N-SH	brain:	n/a	n/a
49	TAF1	chr1:94344569-94345041	GM12892	blood:	n/a	n/a
50	POLR2A	chr1:94344295-94345257	U87	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:94344821-94344871	Jurkat	blood:	n/a
2	chr1:94344821-94344871	Hela-S3	cervix:	n/a
3	chr1:94344811-94344861	HepG2	liver:	n/a
4	chr1:94344811-94344861	AG04450	lung:	fetal
5	chr1:94344821-94344871	HCF	heart:	n/a
6	chr1:94344811-94344861	K562	blood:	n/a
7	chr1:94344821-94344871	HCM	heart:	n/a
8	chr1:94344821-94344871	BE2_C	brain:	n/a
9	chr1:94344821-94344871	GM06990	blood:	n/a
10	chr1:94344821-94344871	H1-hESC	embryonic stem cell:	embryo
11	chr1:94344811-94344861	HCPEpiC	choroid plexus:	n/a
12	chr1:94344811-94344861	ECC-1	luminal epithelium:	n/a
13	chr1:94344821-94344871	HEEpiC	esophagus:	n/a
14	chr1:94344811-94344861	Jurkat	blood:	n/a
15	chr1:94344821-94344871	NHDF-neo	bronchial:	n/a
16	chr1:94344821-94344871	ProgFib	skin:	n/a
17	chr1:94344811-94344861	ProgFib	skin:	n/a
18	chr1:94344811-94344861	GM12891	blood:	n/a
19	chr1:94344821-94344871	NT2-D1	testis:	n/a
20	chr1:94344811-94344861	GM12892	blood:	n/a
21	chr1:94344811-94344861	AG09319	gingival:	n/a
22	chr1:94344811-94344861	IMR90	lung:	fetal
23	chr1:94344821-94344871	HEK293	kidney:	embryo
24	chr1:94344821-94344871	U87	brain:	n/a
25	chr1:94344821-94344871	K562	blood:	n/a
26	chr1:94344821-94344871	SK-N-MC	brain:	n/a
27	chr1:94344821-94344871	SAEC	small airway:	n/a
28	chr1:94344811-94344861	PFSK-1	brain:	n/a
29	chr1:94344821-94344871	HL-60	blood:	n/a
30	chr1:94344821-94344871	HUVEC	blood vessel:	n/a
31	chr1:94344811-94344861	U87	brain:	n/a
32	chr1:94344821-94344871	AG04450	lung:	fetal
33	chr1:94344811-94344861	HL-60	blood:	n/a
34	chr1:94344821-94344871	HPAEpiC	pulmonary alveolar:	n/a
35	chr1:94344811-94344861	HMEC	breast:	n/a
36	chr1:94344811-94344861	HEEpiC	esophagus:	n/a
37	chr1:94344811-94344861	SAEC	small airway:	n/a
38	chr1:94344811-94344861	PrEC	prostate:	n/a
39	chr1:94344811-94344861	GM12878	blood:	n/a
40	chr1:94344821-94344871	ovcar-3	ovarian:	n/a
41	chr1:94344821-94344871	ECC-1	luminal epithelium:	n/a
42	chr1:94344821-94344871	AG10803	skin:	n/a
43	chr1:94344811-94344861	HAEpiC	amniotic membrane:	n/a
44	chr1:94344811-94344861	NHDF-neo	bronchial:	n/a
45	chr1:94344811-94344861	SK-N-SH	brain:	n/a
46	chr1:94344811-94344861	BE2_C	brain:	n/a
47	chr1:94344821-94344871	AoSMC	blood vessel:	n/a
48	chr1:94344821-94344871	NH-A	brain:	n/a
49	chr1:94344811-94344861	HRE	kidney:	n/a
50	chr1:94344821-94344871	HCPEpiC	choroid plexus:	n/a

(count:18 , 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	chr1:94344082..94344904-chr1:156470208..156471411,3	Hela-S3	cervix:
12	chr1:94344248..94345187-chr20:44044733..44045585,2	Hela-S3	cervix:
13	chr1:94344731..94345342-chr11:61559633..61560383,2	Hela-S3	cervix:
14	chr1:94344173..94346291-chr1:94372636..94375124,3	K562	blood:
15	chr1:94342014..94348814-chr1:94369991..94376733,14	K562	blood:
16	chr1:94344260..94345010-chr3:44379818..44380549,2	Hela-S3	cervix:
17	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
18	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:

No data

Variant related genes	Relation type
DNTTIP2	TF binding region
DNTTIP2	CpG island
ENSG00000164934	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000116604	Chromatin interaction
ENSG00000116350	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000179152	Chromatin interaction
ENSG00000107020	Chromatin interaction
ENSG00000168496	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000207601	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000271937	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000124155	Chromatin interaction
ENSG00000117505	Chromatin interaction
ENSG00000134825	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10489605	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11164994	0.90[EUR][1000 genomes]
rs12239830	0.90[EUR][1000 genomes]
rs17100397	0.89[EUR][1000 genomes]
rs17304770	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17878271	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17878294	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17881810	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17884788	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17885151	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17886352	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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];0.94[ASN][1000 genomes]
rs57870303	0.90[EUR][1000 genomes]
rs61425457	0.90[EUR][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];0.94[ASN][1000 genomes]
rs61782163	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61782164	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61782165	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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]
rs61782404	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs61782405	0.92[EUR][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]
rs61782413	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61782449	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61782450	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61782451	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782458	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61782459	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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]
rs72723165	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72723169	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72723178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723192	0.94[ASN][1000 genomes]
rs7523682	0.88[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41292665	GCLM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 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	chr1:94343000-94345000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:94343400-94345000	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr1:94343400-94345400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:94343400-94345400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:94343400-94345400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:94343400-94345400	Active TSS	Right Ventricle	heart
8	chr1:94343400-94345600	Active TSS	Psoas Muscle	Psoas
9	chr1:94343400-94345800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:94343400-94345800	Active TSS	A549	lung
11	chr1:94343600-94345000	Active TSS	HSMMtube	muscle
12	chr1:94343600-94345200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:94343600-94345200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:94343600-94345200	Active TSS	Fetal Brain Female	brain
15	chr1:94343600-94345200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:94343600-94345400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr1:94343600-94345400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:94343600-94345400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:94343600-94345400	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr1:94343600-94345400	Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:94343600-94345400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:94343600-94345400	Active TSS	Colonic Mucosa	Colon
23	chr1:94343600-94345400	Active TSS	K562	blood
24	chr1:94343600-94345600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:94343600-94345600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:94343800-94345000	Active TSS	Colon Smooth Muscle	Colon
27	chr1:94343800-94345000	Active TSS	Lung	lung
28	chr1:94343800-94345000	Active TSS	Rectal Smooth Muscle	rectum
29	chr1:94343800-94345200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:94343800-94345200	Active TSS	Brain Substantia Nigra	brain
31	chr1:94343800-94345200	Active TSS	HSMM	muscle
32	chr1:94343800-94345400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr1:94343800-94345400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:94343800-94345400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:94343800-94345400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:94343800-94345400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:94343800-94345400	Active TSS	Aorta	Aorta
38	chr1:94343800-94345400	Active TSS	Brain Anterior Caudate	brain
39	chr1:94343800-94345400	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr1:94343800-94345400	Active TSS	Fetal Intestine Small	intestine
41	chr1:94343800-94345400	Active TSS	Fetal Muscle Leg	muscle
42	chr1:94343800-94345400	Active TSS	NHDF-Ad	bronchial
43	chr1:94343800-94345400	Active TSS	NHLF	lung
44	chr1:94343800-94345400	Active TSS	Osteobl	bone
45	chr1:94343800-94345600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr1:94343800-94345600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:94343800-94345600	Active TSS	Brain Angular Gyrus	brain
48	chr1:94343800-94345600	Active TSS	Fetal Intestine Large	intestine
49	chr1:94343800-94345600	Active TSS	Fetal Kidney	kidney
50	chr1:94343800-94345600	Active TSS	Right Atrium	heart

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