Variant report

Variant	rs2735594
Chromosome Location	chr1:85741921-85741922
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:316)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:85741401-85742816	HepG2	liver:	n/a	n/a
2	SRF	chr1:85741461-85743025	HCT-116	colon:	n/a	n/a
3	ZBTB7A	chr1:85741873-85742315	K562	blood:	n/a	chr1:85742169-85742176
4	POLR2A	chr1:85741574-85742850	ProgFib	skin:	n/a	n/a
5	TAF1	chr1:85741634-85742811	ECC-1	luminal epithelium:	n/a	n/a
6	TAF1	chr1:85741693-85742708	HepG2	liver:	n/a	n/a
7	NFIC	chr1:85741629-85742189	GM12878	blood:	n/a	n/a
8	GTF2F1	chr1:85741736-85742791	Hela-S3	cervix:	n/a	n/a
9	CREB1	chr1:85741866-85742881	ECC-1	luminal epithelium:	n/a	n/a
10	GABPA	chr1:85741710-85742733	A549	lung:	n/a	chr1:85741945-85741954 chr1:85741911-85741918
11	STAT1	chr1:85741632-85742729	GM12878	blood:	n/a	n/a
12	SPI1	chr1:85741761-85742138	HL-60	blood:	n/a	chr1:85741908-85741921
13	RAD21	chr1:85741588-85742394	IMR90	lung:	n/a	chr1:85742287-85742296
14	ZMIZ1	chr1:85741796-85742815	K562	blood:	n/a	n/a
15	MAX	chr1:85741883-85742702	HepG2	liver:	n/a	chr1:85741944-85741954
16	POLR2A	chr1:85741719-85742814	K562	blood:	n/a	n/a
17	GABPA	chr1:85741658-85742949	SK-N-SH	brain:	n/a	chr1:85741945-85741954 chr1:85741911-85741918
18	POLR2A	chr1:85741694-85742784	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:85740468-85743570	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr1:85740591-85742964	GM12891	blood:	n/a	n/a
21	YY1	chr1:85741871-85742595	GM12892	blood:	n/a	chr1:85742079-85742093 chr1:85741942-85741951 chr1:85742166-85742180
22	ZNF143	chr1:85741679-85742630	H1-hESC	embryonic stem cell:	n/a	chr1:85741944-85741954
23	SRF	chr1:85741870-85742978	MCF-7	breast:	n/a	n/a
24	POLR2A	chr1:85741655-85742724	K562	blood:	n/a	n/a
25	SIN3AK20	chr1:85741227-85742279	PANC-1	pancreas:	n/a	n/a
26	ELF1	chr1:85741703-85742743	K562	blood:	n/a	chr1:85742651-85742662 chr1:85742210-85742219 chr1:85742209-85742222 chr1:85742343-85742355
27	ELF1	chr1:85741515-85742975	HCT-116	colon:	n/a	chr1:85742651-85742662 chr1:85742210-85742219 chr1:85742209-85742222 chr1:85742343-85742355
28	CTCF	chr1:85741880-85742030	HCPEpiC	choroid plexus:	n/a	n/a
29	ZEB1	chr1:85741757-85742188	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:85741835-85742839	HepG2	liver:	n/a	n/a
31	YY1	chr1:85741826-85742294	GM12878	blood:	n/a	chr1:85742079-85742093 chr1:85741942-85741951 chr1:85742166-85742180
32	NFIC	chr1:85741649-85742180	ECC-1	luminal epithelium:	n/a	n/a
33	CREB1	chr1:85741830-85742702	A549	lung:	n/a	n/a
34	TAF1	chr1:85741434-85742652	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr1:85741665-85742849	NB4	blood:	n/a	chr1:85741944-85741954
36	KAP1	chr1:85740518-85742974	HEK293	kidney:	n/a	chr1:85741050-85741059
37	RELA	chr1:85740582-85742917	GM12878	blood:	n/a	chr1:85741485-85741494 chr1:85741485-85741494
38	POLR2A	chr1:85741210-85742785	GM12878	blood:	n/a	n/a
39	SPI1	chr1:85741759-85742009	K562	blood:	n/a	chr1:85741908-85741921
40	POLR2A	chr1:85741369-85742939	Raji	blood:	n/a	n/a
41	POLR2A	chr1:85741820-85742814	HEK293	kidney:	n/a	n/a
42	MTA3	chr1:85741236-85742914	GM12878	blood:	n/a	n/a
43	SIN3AK20	chr1:85741893-85742344	HepG2	liver:	n/a	n/a
44	TCF3	chr1:85741866-85742633	GM12878	blood:	n/a	chr1:85741958-85741972
45	HEY1	chr1:85741619-85742871	HepG2	liver:	n/a	chr1:85741928-85741943 chr1:85742088-85742103 chr1:85742080-85742095
46	MYC	chr1:85741486-85742880	NB4	blood:	n/a	chr1:85741944-85741954
47	ELK4	chr1:85741271-85742801	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr1:85740603-85742874	K562	blood:	n/a	n/a
49	POLR2A	chr1:85741694-85742798	K562	blood:	n/a	n/a
50	POLR2A	chr1:85741287-85742805	GM12891	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:85741899-85741949	AG10803	skin:	n/a
2	chr1:85741899-85741949	HCPEpiC	choroid plexus:	n/a
3	chr1:85741899-85741949	HRCEpiC	kidney:	n/a
4	chr1:85741899-85741949	NB4	blood:	n/a
5	chr1:85741899-85741949	HEEpiC	esophagus:	n/a
6	chr1:85741899-85741949	SK-N-SH	brain:	n/a
7	chr1:85741899-85741949	SK-N-MC	brain:	n/a
8	chr1:85741899-85741949	A549	lung:	n/a
9	chr1:85741899-85741949	GM06990	blood:	n/a
10	chr1:85741899-85741949	HMEC	breast:	n/a
11	chr1:85741899-85741949	HRE	kidney:	n/a
12	chr1:85741899-85741949	HCT-116	colon:	n/a
13	chr1:85741899-85741949	HepG2	liver:	n/a
14	chr1:85741899-85741949	Hepatocyte	liver:	n/a
15	chr1:85741899-85741949	PFSK-1	brain:	n/a
16	chr1:85741899-85741949	SAEC	small airway:	n/a
17	chr1:85741899-85741949	H1-hESC	embryonic stem cell:	embryo
18	chr1:85741899-85741949	ovcar-3	ovarian:	n/a
19	chr1:85741899-85741949	HAEpiC	amniotic membrane:	n/a
20	chr1:85741899-85741949	HIPEpiC	eye:	n/a
21	chr1:85741899-85741949	T-47D	breast:	n/a
22	chr1:85741899-85741949	HCM	heart:	n/a
23	chr1:85741899-85741949	MCF-7	breast:	n/a
24	chr1:85741899-85741949	GM12878	blood:	n/a
25	chr1:85741899-85741949	HCF	heart:	n/a
26	chr1:85741899-85741949	NT2-D1	testis:	n/a
27	chr1:85741899-85741949	U87	brain:	n/a
28	chr1:85741899-85741949	HL-60	blood:	n/a
29	chr1:85741899-85741949	HRPEpiC	eye:	n/a
30	chr1:85741899-85741949	PrEC	prostate:	n/a
31	chr1:85741899-85741949	GM19239	blood:	n/a
32	chr1:85741899-85741949	HPAEpiC	pulmonary alveolar:	n/a
33	chr1:85741899-85741949	PANC-1	pancreas:	n/a
34	chr1:85741899-85741949	NH-A	brain:	n/a
35	chr1:85741899-85741949	SKMC	muscle:	n/a
36	chr1:85741899-85741949	Jurkat	blood:	n/a
37	chr1:85741899-85741949	HEK293	kidney:	embryo
38	chr1:85741899-85741949	SK-N-SH_RA	brain:	n/a
39	chr1:85741899-85741949	HNPCEpiC	eye:	n/a
40	chr1:85741899-85741949	CMK	blood:	n/a
41	chr1:85741899-85741949	LNCaP	prostate:	n/a
42	chr1:85741899-85741949	HUVEC	blood vessel:	n/a
43	chr1:85741899-85741949	NHBE	bronchial:	n/a
44	chr1:85741899-85741949	Caco-2	colon:	n/a
45	chr1:85741899-85741949	AG09309	skin:	n/a
46	chr1:85741899-85741949	IMR90	lung:	fetal
47	chr1:85741899-85741949	NHDF-neo	bronchial:	n/a
48	chr1:85741899-85741949	ECC-1	luminal epithelium:	n/a
49	chr1:85741899-85741949	AG04449	skin:	fetal
50	chr1:85741899-85741949	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr1:85739753..85743262-chr1:86045535..86049012,3	K562	blood:
2	chr1:85665913..85668656-chr1:85741362..85743092,3	MCF-7	breast:
3	chr1:85741786..85742295-chr1:234745478..234746136,2	Hela-S3	cervix:
4	chr1:85665631..85669772-chr1:85739485..85744059,5	K562	blood:
5	chr1:85741753..85742600-chr17:48133754..48134482,2	Hela-S3	cervix:
6	chr1:85740297..85741951-chr1:85930278..85931798,2	MCF-7	breast:
7	chr1:85740856..85742558-chr1:86046586..86048600,2	MCF-7	breast:
8	chr1:85722628..85726570-chr1:85740869..85744448,4	MCF-7	breast:
9	chr1:85741740..85742671-chr16:577325..578168,2	Hela-S3	cervix:
10	chr1:85723214..85729954-chr1:85738689..85743771,11	K562	blood:
11	chr1:85665227..85667257-chr1:85740935..85743875,2	K562	blood:
12	chr1:85741905..85744580-chr1:85747619..85751624,6	K562	blood:
13	chr1:85739584..85746681-chr1:86042287..86049012,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223653	TF binding region
ENSG00000223653	CpG island
ENSG00000162642	Chromatin interaction
ENSG00000264380	Chromatin interaction
ENSG00000153904	Chromatin interaction
ENSG00000272691	Chromatin interaction
ENSG00000142871	Chromatin interaction
ENSG00000005884	Chromatin interaction
ENSG00000097096	Chromatin interaction
ENSG00000103326	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10493762	0.82[JPT][hapmap]
rs11161556	0.91[EUR][1000 genomes]
rs11161574	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11161584	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11577656	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11583836	0.83[CEU][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes]
rs12563295	0.88[EUR][1000 genomes]
rs17123650	0.81[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2252408	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs233101	0.84[CHB][hapmap]
rs233102	0.81[CHB][hapmap]
rs2647396	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2735587	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2735588	0.88[ASN][1000 genomes]
rs2735591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2735592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2735593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36006436	0.88[EUR][1000 genomes]
rs4907139	0.83[JPT][hapmap]
rs4949892	0.93[EUR][1000 genomes]
rs4949926	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60156243	0.93[EUR][1000 genomes]
rs6663690	0.83[CEU][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes]
rs6671589	0.81[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6693365	0.94[CEU][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72722624	0.87[EUR][1000 genomes]
rs72722631	0.88[EUR][1000 genomes]
rs72722638	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722643	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2735594	C1orf52	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85739200-85743000	Active TSS	Psoas Muscle	Psoas
2	chr1:85739600-85742200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:85739800-85742800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:85740200-85743200	Active TSS	Colonic Mucosa	Colon
5	chr1:85740400-85742400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:85740400-85742600	Active TSS	GM12878-XiMat	blood
7	chr1:85740400-85742800	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr1:85740600-85742000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr1:85740600-85742800	Active TSS	Fetal Intestine Large	intestine
10	chr1:85740600-85742800	Active TSS	Ovary	ovary
11	chr1:85740600-85743000	Active TSS	Right Atrium	heart
12	chr1:85740600-85743000	Active TSS	Right Ventricle	heart
13	chr1:85740600-85743200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:85740600-85743200	Active TSS	Esophagus	oesophagus
15	chr1:85740800-85742200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:85740800-85742600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:85740800-85742600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr1:85740800-85742600	Active TSS	HMEC	breast
19	chr1:85740800-85742600	Active TSS	NHEK	skin
20	chr1:85740800-85742800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:85740800-85742800	Active TSS	Left Ventricle	heart
22	chr1:85740800-85742800	Active TSS	Stomach Mucosa	stomach
23	chr1:85740800-85742800	Active TSS	NHDF-Ad	bronchial
24	chr1:85740800-85742800	Active TSS	NHLF	lung
25	chr1:85740800-85743000	Active TSS	Aorta	Aorta
26	chr1:85740800-85743400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:85741000-85742600	Active TSS	Muscle Satellite Cultured Cells	--
28	chr1:85741000-85742600	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr1:85741000-85742600	Active TSS	NH-A	brain
30	chr1:85741000-85742800	Active TSS	HSMM	muscle
31	chr1:85741000-85742800	Active TSS	HUVEC	blood vessel
32	chr1:85741000-85743000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:85741000-85743000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:85741000-85743000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:85741000-85743000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:85741000-85743000	Active TSS	Fetal Muscle Leg	muscle
37	chr1:85741000-85743200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr1:85741000-85743200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr1:85741000-85743200	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr1:85741200-85742200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:85741200-85742600	Active TSS	Brain Cingulate Gyrus	brain
42	chr1:85741200-85742600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr1:85741200-85742600	Active TSS	Osteobl	bone
44	chr1:85741200-85742800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:85741200-85742800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:85741200-85742800	Active TSS	Fetal Intestine Small	intestine
47	chr1:85741200-85742800	Active TSS	Small Intestine	intestine
48	chr1:85741200-85742800	Active TSS	K562	blood
49	chr1:85741200-85743000	Active TSS	H1 Cell Line	embryonic stem cell
50	chr1:85741200-85743000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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