Variant report

Variant	rs17018373
Chromosome Location	chr1:212209034-212209035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr1:212208232-212209585	MCF-7	breast:	n/a	chr1:212209082-212209090 chr1:212209077-212209092 chr1:212208511-212208518 chr1:212209082-212209090 chr1:212209094-212209101 chr1:212209081-212209091 chr1:212208511-212208518 chr1:212209071-212209080 chr1:212209081-212209092 chr1:212208587-212208596 chr1:212209082-212209093 chr1:212209073-212209082 chr1:212208949-212208958 chr1:212209002-212209011 chr1:212208511-212208518 chr1:212209082-212209089 chr1:212208898-212208907
2	MAX	chr1:212208121-212209696	NB4	blood:	n/a	chr1:212208643-212208652
3	POLR2A	chr1:212207997-212209428	HCT-116	colon:	n/a	n/a
4	MYBL2	chr1:212208125-212209477	HepG2	liver:	n/a	chr1:212209290-212209305
5	IRF3	chr1:212208268-212209326	Hela-S3	cervix:	n/a	chr1:212209001-212209015
6	MAX	chr1:212208197-212209573	SK-N-SH	brain:	n/a	chr1:212208643-212208652
7	MYC	chr1:212207746-212209655	A549	lung:	n/a	chr1:212208643-212208652
8	YY1	chr1:212208384-212209331	ECC-1	luminal epithelium:	n/a	chr1:212208833-212208853
9	TAF1	chr1:212208208-212209453	A549	lung:	n/a	n/a
10	RAD21	chr1:212207874-212209466	SK-N-SH	brain:	n/a	chr1:212208616-212208635 chr1:212208620-212208634 chr1:212208621-212208640 chr1:212208625-212208634
11	YY1	chr1:212208316-212209393	HepG2	liver:	n/a	chr1:212208833-212208853
12	JUND	chr1:212207999-212209638	K562	blood:	n/a	chr1:212209072-212209081 chr1:212209058-212209067
13	STAT5A	chr1:212208157-212209654	K562	blood:	n/a	chr1:212209315-212209338
14	TBL1XR1	chr1:212207742-212209819	K562	blood:	n/a	n/a
15	CEBPB	chr1:212207945-212209491	Hela-S3	cervix:	n/a	chr1:212209057-212209065 chr1:212208358-212208369 chr1:212208356-212208367 chr1:212208356-212208369
16	MAX	chr1:212208288-212209465	HepG2	liver:	n/a	chr1:212208643-212208652
17	POLR2A	chr1:212207936-212209565	K562	blood:	n/a	n/a
18	CHD2	chr1:212208248-212209542	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr1:212208123-212209688	K562	blood:	n/a	n/a
20	SMC3	chr1:212208210-212209359	K562	blood:	n/a	chr1:212208620-212208634 chr1:212208622-212208636 chr1:212208627-212208634
21	CREB1	chr1:212208819-212209503	ECC-1	luminal epithelium:	n/a	n/a
22	UBTF	chr1:212208032-212209595	K562	blood:	n/a	n/a
23	POLR2A	chr1:212207982-212209730	K562	blood:	n/a	n/a
24	SIN3AK20	chr1:212208276-212209596	SK-N-SH	brain:	n/a	n/a
25	YY1	chr1:212208296-212209433	GM12878	blood:	n/a	chr1:212208833-212208853
26	EGR1	chr1:212208312-212209239	K562	blood:	n/a	chr1:212208949-212208958 chr1:212208898-212208907 chr1:212208541-212208556 chr1:212208587-212208596 chr1:212208568-212208578 chr1:212209097-212209107
27	ETS1	chr1:212208093-212209470	A549	lung:	n/a	chr1:212209119-212209132
28	CHD1	chr1:212208183-212209576	GM12878	blood:	n/a	n/a
29	GTF2F1	chr1:212208001-212209484	Hela-S3	cervix:	n/a	n/a
30	CEBPD	chr1:212207965-212209506	K562	blood:	n/a	chr1:212208357-212208368
31	CREB1	chr1:212208067-212209521	K562	blood:	n/a	n/a
32	TAF1	chr1:212208234-212209567	PFSK-1	brain:	n/a	n/a
33	CEBPB	chr1:212208037-212209079	GM12878	blood:	n/a	chr1:212209057-212209065 chr1:212208358-212208369 chr1:212208356-212208367 chr1:212208356-212208369
34	PML	chr1:212207924-212209469	K562	blood:	n/a	n/a
35	POLR2A	chr1:212208337-212209376	Raji	blood:	n/a	n/a
36	POLR2A	chr1:212208142-212209353	GM18951	blood:	n/a	n/a
37	MXI1	chr1:212208018-212209634	Hela-S3	cervix:	n/a	n/a
38	CBX3	chr1:212207864-212209774	K562	blood:	n/a	n/a
39	MYC	chr1:212208334-212209459	K562	blood:	n/a	chr1:212208643-212208652
40	MAX	chr1:212208150-212209709	Hela-S3	cervix:	n/a	chr1:212208643-212208652
41	ELK4	chr1:212208836-212209322	Hela-S3	cervix:	n/a	n/a
42	SIN3AK20	chr1:212208945-212209457	HepG2	liver:	n/a	n/a
43	TBL1XR1	chr1:212208333-212209086	GM12878	blood:	n/a	n/a
44	CREB1	chr1:212208813-212209265	A549	lung:	n/a	n/a
45	TAF1	chr1:212208375-212209332	SK-N-SH	brain:	n/a	n/a
46	NRF1	chr1:212208398-212209094	HepG2	liver:	n/a	chr1:212208948-212208959 chr1:212208586-212208597 chr1:212208894-212208908 chr1:212208947-212208958 chr1:212208899-212208908 chr1:212208586-212208595 chr1:212208948-212208962 chr1:212208583-212208597 chr1:212208897-212208908 chr1:212208897-212208911 chr1:212208588-212208597 chr1:212208945-212208959 chr1:212208897-212208908 chr1:212208948-212208957
47	MAX	chr1:212208271-212209567	H1-hESC	embryonic stem cell:	n/a	chr1:212208643-212208652
48	ETS1	chr1:212208312-212209398	K562	blood:	n/a	chr1:212209119-212209132
49	TBP	chr1:212207976-212209928	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr1:212208486-212209280	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:212208793..212209495-chr19:54369421..54370290,2	Hela-S3	cervix:
2	chr1:211431809..211433608-chr1:212207599..212209157,2	K562	blood:
3	chr1:212207393..212212126-chr1:212456103..212460187,5	K562	blood:
4	chr1:212208566..212209259-chr16:48419035..48419960,2	Hela-S3	cervix:
5	chr1:149859033..149859552-chr1:212208774..212209584,2	Hela-S3	cervix:
6	chr1:212142033..212144283-chr1:212206917..212209374,2	K562	blood:
7	chr1:212208416..212209082-chr6:31633437..31633993,2	Hela-S3	cervix:
8	chr1:212181923..212187043-chr1:212203247..212211054,10	K562	blood:
9	chr1:212208791..212209530-chr17:62223167..62223766,2	Hela-S3	cervix:
10	chr1:212206622..212210088-chr1:212456790..212460936,6	K562	blood:
11	chr1:212209024..212209539-chr6:30711862..30712775,2	Hela-S3	cervix:
12	chr1:212208980..212209502-chr11:11863065..11863747,2	Hela-S3	cervix:
13	chr1:212198329..212200446-chr1:212208407..212211007,2	MCF-7	breast:
14	chr1:212208449..212209308-chr2:113342043..113342672,2	Hela-S3	cervix:
15	chr1:211848085..211850808-chr1:212208417..212210048,2	K562	blood:
16	chr1:212208971..212209662-chr20:58515021..58515695,2	Hela-S3	cervix:
17	chr1:211848085..211850740-chr1:212207683..212210151,5	K562	blood:
18	chr1:212002304..212005337-chr1:212206926..212210304,4	K562	blood:
19	chr1:153643235..153643829-chr1:212208699..212209542,2	Hela-S3	cervix:
20	chr1:70687006..70687600-chr1:212208863..212209612,2	Hela-S3	cervix:

Variant related genes	Relation type
DTL	TF binding region
INTS7	TF binding region
ENSG00000132825	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000116754	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000196470	Chromatin interaction
ENSG00000229258	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000196227	Chromatin interaction
ENSG00000117625	Chromatin interaction
ENSG00000117650	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000263020	Chromatin interaction
ENSG00000179820	Chromatin interaction
ENSG00000143493	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000066027	Chromatin interaction
ENSG00000123684	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000212187	Chromatin interaction
ENSG00000231057	Chromatin interaction
ENSG00000170242	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12121937	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.84[ASN][1000 genomes]
rs2358384	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7534669	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.84[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212206800-212210400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:212207000-212209600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:212207000-212210400	Active TSS	NHLF	lung
4	chr1:212207000-212211000	Active TSS	GM12878-XiMat	blood
5	chr1:212207200-212209200	Active TSS	HepG2	liver
6	chr1:212207200-212209600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:212207200-212210600	Active TSS	Hela-S3	cervix
8	chr1:212207200-212210600	Active TSS	K562	blood
9	chr1:212207200-212210800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:212207200-212211400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:212207400-212209200	Active TSS	Duodenum Mucosa	Duodenum
12	chr1:212207400-212209800	Active TSS	Osteobl	bone
13	chr1:212207400-212210200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:212207400-212210400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:212207400-212210400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:212207400-212210400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:212207400-212210400	Active TSS	Fetal Intestine Large	intestine
18	chr1:212207400-212210400	Active TSS	HMEC	breast
19	chr1:212207400-212210600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:212207400-212210600	Active TSS	NHEK	skin
21	chr1:212207400-212210800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:212207400-212210800	Active TSS	A549	lung
23	chr1:212207400-212211200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:212207600-212209200	Active TSS	Colon Smooth Muscle	Colon
25	chr1:212207600-212209200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr1:212207600-212209400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:212207600-212209400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr1:212207600-212209600	Active TSS	Fetal Lung	lung
29	chr1:212207600-212209800	Active TSS	Fetal Intestine Small	intestine
30	chr1:212207600-212209800	Active TSS	Psoas Muscle	Psoas
31	chr1:212207600-212209800	Active TSS	Stomach Smooth Muscle	stomach
32	chr1:212207600-212210200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:212207600-212210200	Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:212207600-212210400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr1:212207600-212210400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr1:212207600-212210400	Active TSS	HSMM	muscle
37	chr1:212207600-212210400	Active TSS	NH-A	brain
38	chr1:212207600-212210600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:212207600-212210600	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr1:212207600-212210600	Active TSS	NHDF-Ad	bronchial
41	chr1:212207600-212210800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:212207600-212210800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr1:212207600-212210800	Active TSS	Fetal Kidney	kidney
44	chr1:212207600-212210800	Active TSS	Fetal Muscle Leg	muscle
45	chr1:212207600-212211000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr1:212207600-212211400	Active TSS	H1 Cell Line	embryonic stem cell
47	chr1:212207600-212211400	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr1:212207800-212209200	Active TSS	Colonic Mucosa	Colon
49	chr1:212207800-212209200	Active TSS	Placenta	Placenta
50	chr1:212207800-212209200	Active TSS	Rectal Mucosa Donor 31	rectum

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