Variant report

Variant	rs7603756
Chromosome Location	chr2:110371852-110371853
allele	A/G
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	POLR2A	chr2:110371208-110372397	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr2:110371323-110372046	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr2:110370191-110373374	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr2:110371449-110372079	GM12878	blood:	n/a	chr2:110371843-110371853 chr2:110371780-110371792 chr2:110371684-110371693 chr2:110371842-110371854 chr2:110371843-110371853 chr2:110371780-110371791
5	ZBTB33	chr2:110371400-110372077	SK-N-SH	brain:	n/a	chr2:110371766-110371776 chr2:110371763-110371773
6	BRCA1	chr2:110371410-110371952	GM12878	blood:	n/a	n/a
7	CREB1	chr2:110371389-110372063	A549	lung:	n/a	n/a
8	BRCA1	chr2:110371350-110372402	HepG2	liver:	n/a	n/a
9	HDAC2	chr2:110370946-110372330	HepG2	liver:	n/a	n/a
10	GABPA	chr2:110371548-110372014	Hela-S3	cervix:	n/a	n/a
11	ELK4	chr2:110371546-110372173	HEK293	kidney:	n/a	chr2:110371773-110371784 chr2:110371774-110371783
12	POLR2A	chr2:110370936-110372361	GM18505	blood:	n/a	n/a
13	CEBPB	chr2:110371320-110372227	HepG2	liver:	n/a	n/a
14	CTBP2	chr2:110371735-110373651	H1-hESC	embryonic stem cell:	n/a	n/a
15	REST	chr2:110371507-110372010	SK-N-SH	brain:	n/a	chr2:110371830-110371840
16	CEBPD	chr2:110371027-110372227	HepG2	liver:	n/a	n/a
17	GABPA	chr2:110371689-110371901	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr2:110370338-110372364	HepG2	liver:	n/a	n/a
19	ELK1	chr2:110371579-110371989	GM12878	blood:	n/a	chr2:110371774-110371783 chr2:110371774-110371783
20	MAX	chr2:110371329-110373605	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZBTB33	chr2:110371427-110372160	HCT-116	colon:	n/a	chr2:110371766-110371776 chr2:110371763-110371773
22	PBX3	chr2:110371326-110372165	SK-N-SH	brain:	n/a	n/a
23	SPI1	chr2:110371588-110372012	HL-60	blood:	n/a	n/a
24	ZBTB33	chr2:110371502-110371970	GM12878	blood:	n/a	chr2:110371766-110371776 chr2:110371763-110371773
25	E2F6	chr2:110371298-110371987	A549	lung:	n/a	chr2:110371309-110371321
26	PAX5	chr2:110371559-110371927	GM12878	blood:	n/a	chr2:110371836-110371845
27	SP1	chr2:110371403-110372033	HepG2	liver:	n/a	chr2:110371843-110371853 chr2:110371780-110371792 chr2:110371684-110371693 chr2:110371842-110371854 chr2:110371843-110371853 chr2:110371780-110371791
28	POLR2A	chr2:110370559-110372272	HUVEC	blood vessel:	n/a	n/a
29	ELF1	chr2:110371469-110372044	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr2:110371298-110372099	SK-N-SH	brain:	n/a	n/a
31	E2F6	chr2:110371376-110372067	A549	lung:	n/a	n/a
32	POLR2A	chr2:110371075-110372350	MCF-7	breast:	n/a	n/a
33	POLR2A	chr2:110371553-110371859	GM12878	blood:	n/a	n/a
34	JUND	chr2:110371604-110371935	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:110371322-110372274	A549	lung:	n/a	n/a
36	SREBP1	chr2:110370971-110373327	HepG2	liver:	n/a	n/a
37	NFIC	chr2:110371626-110372072	ECC-1	luminal epithelium:	n/a	n/a
38	TAF1	chr2:110371267-110372087	A549	lung:	n/a	n/a
39	E2F6	chr2:110371310-110372016	H1-hESC	embryonic stem cell:	n/a	n/a
40	MYC	chr2:110371540-110372369	H1-hESC	embryonic stem cell:	n/a	n/a
41	MBD4	chr2:110371485-110372086	HepG2	liver:	n/a	n/a
42	CREB1	chr2:110371606-110371964	ECC-1	luminal epithelium:	n/a	n/a
43	PBX3	chr2:110371610-110372114	A549	lung:	n/a	n/a
44	EGR1	chr2:110371446-110372139	ECC-1	luminal epithelium:	n/a	chr2:110371836-110371845 chr2:110371569-110371583 chr2:110371776-110371789 chr2:110371774-110371783 chr2:110371839-110371853
45	POLR2A	chr2:110371194-110372086	U87	brain:	n/a	n/a
46	MYBL2	chr2:110370502-110374022	HepG2	liver:	n/a	chr2:110371047-110371062
47	PAX5	chr2:110371549-110372022	GM12878	blood:	n/a	chr2:110371836-110371845
48	TCF7L2	chr2:110371438-110372265	HCT-116	colon:	n/a	n/a
49	GABPA	chr2:110371510-110372107	A549	lung:	n/a	n/a
50	MAX	chr2:110371295-110373567	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:110371848-110371898	AG10803	skin:	n/a
2	chr2:110371848-110371898	NT2-D1	testis:	n/a
3	chr2:110371804-110371854	Hela-S3	cervix:	n/a
4	chr2:110371848-110371898	HNPCEpiC	eye:	n/a
5	chr2:110371804-110371854	PANC-1	pancreas:	n/a
6	chr2:110371804-110371854	AG04450	lung:	fetal
7	chr2:110371848-110371898	SK-N-MC	brain:	n/a
8	chr2:110371804-110371854	RPTEC	kidney:	n/a
9	chr2:110371848-110371898	CMK	blood:	n/a
10	chr2:110371804-110371854	GM12892	blood:	n/a
11	chr2:110371804-110371854	H1-hESC	embryonic stem cell:	embryo
12	chr2:110371804-110371854	Hepatocyte	liver:	n/a
13	chr2:110371848-110371898	SK-N-SH_RA	brain:	n/a
14	chr2:110371848-110371898	SK-N-SH	brain:	n/a
15	chr2:110371804-110371854	HCF	heart:	n/a
16	chr2:110371848-110371898	AG09309	skin:	n/a
17	chr2:110371848-110371898	Jurkat	blood:	n/a
18	chr2:110371804-110371854	HL-60	blood:	n/a
19	chr2:110371848-110371898	AG09319	gingival:	n/a
20	chr2:110371804-110371854	HRCEpiC	kidney:	n/a
21	chr2:110371804-110371854	PrEC	prostate:	n/a
22	chr2:110371848-110371898	NHDF-neo	bronchial:	n/a
23	chr2:110371804-110371854	HMEC	breast:	n/a
24	chr2:110371804-110371854	T-47D	breast:	n/a
25	chr2:110371848-110371898	GM12891	blood:	n/a
26	chr2:110371804-110371854	GM06990	blood:	n/a
27	chr2:110371804-110371854	AoSMC	blood vessel:	n/a
28	chr2:110371848-110371898	HCPEpiC	choroid plexus:	n/a
29	chr2:110371804-110371854	HPAEpiC	pulmonary alveolar:	n/a
30	chr2:110371848-110371898	HRPEpiC	eye:	n/a
31	chr2:110371848-110371898	PrEC	prostate:	n/a
32	chr2:110371804-110371854	HUVEC	blood vessel:	n/a
33	chr2:110371804-110371854	NH-A	brain:	n/a
34	chr2:110371848-110371898	LNCaP	prostate:	n/a
35	chr2:110371804-110371854	HCPEpiC	choroid plexus:	n/a
36	chr2:110371804-110371854	SK-N-MC	brain:	n/a
37	chr2:110371848-110371898	ovcar-3	ovarian:	n/a
38	chr2:110371848-110371898	AG04449	skin:	fetal
39	chr2:110371804-110371854	GM19239	blood:	n/a
40	chr2:110371804-110371854	BE2_C	brain:	n/a
41	chr2:110371848-110371898	HPAEpiC	pulmonary alveolar:	n/a
42	chr2:110371848-110371898	HRCEpiC	kidney:	n/a
43	chr2:110371804-110371854	A549	lung:	n/a
44	chr2:110371848-110371898	NB4	blood:	n/a
45	chr2:110371848-110371898	HEK293	kidney:	embryo
46	chr2:110371804-110371854	HAEpiC	amniotic membrane:	n/a
47	chr2:110371848-110371898	HCF	heart:	n/a
48	chr2:110371848-110371898	ECC-1	luminal epithelium:	n/a
49	chr2:110371804-110371854	AG04449	skin:	fetal
50	chr2:110371848-110371898	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:110371308..110372287-chr5:10353212..10353755,2	Hela-S3	cervix:
2	chr17:6543992..6544843-chr2:110371663..110372369,2	Hela-S3	cervix:
3	chr2:110362640..110365155-chr2:110368934..110372656,4	MCF-7	breast:
4	chr17:79894755..79895355-chr2:110371220..110371968,2	HCT-116	colon:
5	chr1:150131401..150134100-chr2:110369407..110372211,2	MCF-7	breast:

Variant related genes	Relation type
SEPT10	TF binding region
SOWAHC	TF binding region
SEPT10	CpG island
SOWAHC	CpG island
ENSG00000023902	Chromatin interaction
ENSG00000259802	Chromatin interaction
ENSG00000230696	Chromatin interaction
ENSG00000198920	Chromatin interaction
ENSG00000183010	Chromatin interaction
ENSG00000129235	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1046645	0.95[EUR][1000 genomes]
rs10496433	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1560884	0.92[EUR][1000 genomes]
rs1836211	0.87[EUR][1000 genomes]
rs2014730	0.87[EUR][1000 genomes]
rs28464477	0.86[EUR][1000 genomes]
rs28513618	0.87[EUR][1000 genomes]
rs28588372	0.82[EUR][1000 genomes]
rs28613553	0.87[EUR][1000 genomes]
rs2867277	0.82[EUR][1000 genomes]
rs2867909	0.84[EUR][1000 genomes]
rs2867910	0.82[EUR][1000 genomes]
rs28719784	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28800201	0.94[EUR][1000 genomes]
rs28853417	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2903697	0.83[EUR][1000 genomes]
rs60272411	0.88[EUR][1000 genomes]
rs61049649	0.87[EUR][1000 genomes]
rs61428642	0.87[EUR][1000 genomes]
rs61548546	0.82[EUR][1000 genomes]
rs6705503	0.88[EUR][1000 genomes]
rs6713646	0.94[EUR][1000 genomes]
rs6735752	0.82[ASN][1000 genomes]
rs6760478	0.82[EUR][1000 genomes]
rs717189	0.85[AMR][1000 genomes]
rs726901	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72940218	0.87[EUR][1000 genomes]
rs7568492	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7568799	0.88[EUR][1000 genomes]
rs7572991	0.92[EUR][1000 genomes]
rs7579996	0.93[EUR][1000 genomes]
rs7590230	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9677631	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv829617	chr2:110359857-110380012	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	esv2762780	chr2:110367969-110462496	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3342666	chr2:110371088-110373636	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
10	esv3368733	chr2:110371213-110373661	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7603756	ANKRD57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110369000-110373000	Active TSS	NHLF	lung
2	chr2:110369000-110373800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:110369400-110372000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:110369400-110372400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:110369400-110372400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:110369400-110372600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:110369400-110373200	Active TSS	HSMM	muscle
8	chr2:110369400-110374600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:110369600-110372600	Active TSS	Right Atrium	heart
10	chr2:110369600-110372800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:110369600-110373800	Active TSS	Aorta	Aorta
12	chr2:110369600-110374000	Active TSS	Hela-S3	cervix
13	chr2:110369800-110372600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:110369800-110373400	Active TSS	A549	lung
15	chr2:110369800-110374200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:110370000-110372200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:110370000-110372400	Active TSS	Right Ventricle	heart
18	chr2:110370000-110372600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr2:110370000-110372600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr2:110370000-110372600	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr2:110370000-110372600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:110370000-110372600	Active TSS	Fetal Stomach	stomach
23	chr2:110370000-110372600	Active TSS	Ovary	ovary
24	chr2:110370000-110372600	Active TSS	HMEC	breast
25	chr2:110370000-110372800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:110370000-110372800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr2:110370000-110373000	Active TSS	NHDF-Ad	bronchial
28	chr2:110370000-110373800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr2:110370000-110373800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr2:110370000-110374000	Active TSS	Fetal Kidney	kidney
31	chr2:110370000-110374800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:110370000-110375000	Active TSS	NHEK	skin
33	chr2:110370200-110372400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:110370200-110372400	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr2:110370200-110372600	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr2:110370200-110372600	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr2:110370200-110372600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:110370200-110372600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr2:110370200-110372600	Active TSS	Fetal Muscle Trunk	muscle
40	chr2:110370200-110372600	Active TSS	Placenta	Placenta
41	chr2:110370200-110372600	Active TSS	Left Ventricle	heart
42	chr2:110370200-110372600	Active TSS	Psoas Muscle	Psoas
43	chr2:110370200-110372800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:110370200-110372800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:110370200-110373000	Active TSS	Fetal Lung	lung
46	chr2:110370200-110373800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:110370400-110372000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:110370400-110372000	Bivalent/Poised TSS	Thymus	Thymus
49	chr2:110370400-110372200	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr2:110370400-110372400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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