Variant report

Variant	rs17852693
Chromosome Location	chr3:98619997-98619998
allele	C/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	chr3:98618321-98620638	SK-N-SH	brain:	n/a	n/a
2	ZBTB7A	chr3:98619769-98620573	K562	blood:	n/a	n/a
3	TAF1	chr3:98619761-98621074	SK-N-SH	brain:	n/a	n/a
4	MYC	chr3:98619978-98620263	MCF-7	breast:	n/a	n/a
5	MAZ	chr3:98619241-98621681	IMR90	lung:	n/a	n/a
6	HA-E2F1	chr3:98619996-98621050	Hela-S3	cervix:	n/a	n/a
7	CHD1	chr3:98619863-98620496	H1-hESC	embryonic stem cell:	n/a	chr3:98620361-98620371
8	ZBTB7A	chr3:98619646-98621127	ECC-1	luminal epithelium:	n/a	chr3:98620704-98620711
9	EP300	chr3:98619783-98621301	SK-N-SH	brain:	n/a	chr3:98620499-98620515 chr3:98620885-98620892 chr3:98621042-98621056
10	MAX	chr3:98619724-98621179	HepG2	liver:	n/a	n/a
11	REST	chr3:98619564-98621432	H1-neurons	neurons:	n/a	chr3:98620358-98620368
12	TAF1	chr3:98619078-98621229	A549	lung:	n/a	n/a
13	CHD2	chr3:98619899-98620166	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr3:98619785-98621388	MCF-7	breast:	n/a	n/a
15	MXI1	chr3:98619865-98620887	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3AK20	chr3:98619584-98620200	A549	lung:	n/a	n/a
17	POLR2A	chr3:98619780-98621155	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr3:98619797-98620166	SK-N-SH_RA	brain:	n/a	n/a
19	YY1	chr3:98619940-98620277	K562	blood:	n/a	chr3:98620255-98620266 chr3:98620208-98620219
20	UBTF	chr3:98619691-98621034	K562	blood:	n/a	n/a
21	UBTF	chr3:98619758-98621017	K562	blood:	n/a	n/a
22	GATA2	chr3:98619874-98621719	SH-SY5Y	brain:	n/a	chr3:98621157-98621168
23	POLR2A	chr3:98619866-98621061	HUVEC	blood vessel:	n/a	n/a
24	RCOR1	chr3:98619861-98621540	K562	blood:	n/a	n/a
25	EGR1	chr3:98619877-98620269	ECC-1	luminal epithelium:	n/a	chr3:98620092-98620106 chr3:98620035-98620049 chr3:98620061-98620075
26	REST	chr3:98619641-98621253	A549	lung:	n/a	chr3:98620358-98620368
27	YY1	chr3:98619985-98621054	GM12892	blood:	n/a	chr3:98620437-98620446 chr3:98620255-98620266 chr3:98620858-98620872 chr3:98620208-98620219
28	HA-E2F1	chr3:98619690-98621251	MCF-7	breast:	n/a	chr3:98619867-98619876
29	POLR2A	chr3:98619772-98621198	GM12892	blood:	n/a	n/a
30	EBF1	chr3:98619677-98620228	GM12878	blood:	n/a	chr3:98619947-98619957 chr3:98619946-98619957 chr3:98619948-98619957 chr3:98619946-98619959
31	TAF1	chr3:98619982-98621010	HepG2	liver:	n/a	n/a
32	RAD21	chr3:98619508-98620623	IMR90	lung:	n/a	chr3:98620243-98620262 chr3:98620218-98620232
33	MAX	chr3:98619701-98620205	MCF-7	breast:	n/a	n/a
34	SP1	chr3:98619263-98621521	HCT-116	colon:	n/a	chr3:98620772-98620783 chr3:98620982-98620996 chr3:98621186-98621196 chr3:98620576-98620588 chr3:98620772-98620784 chr3:98621186-98621195 chr3:98620577-98620587 chr3:98621182-98621196 chr3:98620576-98620588 chr3:98620773-98620787 chr3:98620392-98620401 chr3:98620772-98620784 chr3:98620577-98620587
35	PBX3	chr3:98619748-98621422	SK-N-SH	brain:	n/a	n/a
36	EGR1	chr3:98619839-98620326	MCF-7	breast:	n/a	chr3:98620092-98620106 chr3:98620035-98620049 chr3:98620061-98620075
37	POLR2A	chr3:98619986-98621099	K562	blood:	n/a	n/a
38	RCOR1	chr3:98619923-98621359	Hela-S3	cervix:	n/a	n/a
39	TAF1	chr3:98619866-98620646	H1-hESC	embryonic stem cell:	n/a	n/a
40	TBP	chr3:98619800-98621111	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr3:98619880-98621195	K562	blood:	n/a	n/a
42	POLR2A	chr3:98619668-98621142	ECC-1	luminal epithelium:	n/a	n/a
43	GATA3	chr3:98619677-98621668	A549	lung:	n/a	chr3:98621157-98621168
44	MYC	chr3:98619782-98621004	MCF-7	breast:	n/a	n/a
45	EBF1	chr3:98619727-98620151	GM12878	blood:	n/a	chr3:98619947-98619957 chr3:98619946-98619957 chr3:98619948-98619957 chr3:98619946-98619959
46	POLR2A	chr3:98619822-98620663	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAZ	chr3:98619882-98621214	HepG2	liver:	n/a	n/a
48	POLR2A	chr3:98619740-98621167	H1-neurons	neurons:	n/a	n/a
49	SP1	chr3:98619734-98621187	A549	lung:	n/a	chr3:98620772-98620783 chr3:98620982-98620996 chr3:98620576-98620588 chr3:98620772-98620784 chr3:98620577-98620587 chr3:98620576-98620588 chr3:98620773-98620787 chr3:98620392-98620401 chr3:98620772-98620784 chr3:98620577-98620587
50	CHD2	chr3:98619989-98620940	GM12878	blood:	n/a	chr3:98620361-98620371

Variant related genes	Relation type
DCBLD2	TF binding region
ENSG00000239462	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10433438	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511169	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511171	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10935518	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10935542	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10935564	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11708475	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11716000	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11716007	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11716281	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11716579	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719660	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11914591	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11914715	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11916285	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11918243	0.97[ASN][1000 genomes]
rs11918944	0.91[ASN][1000 genomes]
rs11920205	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11920327	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11922078	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11923486	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11923805	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11928233	0.91[ASN][1000 genomes]
rs12203	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13069458	0.91[ASN][1000 genomes]
rs1440154	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1471588	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16840260	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846347	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17210963	0.89[EUR][1000 genomes]
rs17212369	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17213336	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17278047	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17278278	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1822017	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1827158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278599	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3772100	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55650073	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55662129	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55730510	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55764252	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55988144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56075614	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56290036	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56322058	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276861	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276862	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62276864	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62276869	0.91[ASN][1000 genomes]
rs62276879	0.85[ASN][1000 genomes]
rs62276883	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62276884	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62276885	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62276888	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62276909	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6440159	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6440253	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66517942	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6805605	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73136038	0.90[EUR][1000 genomes]
rs73136045	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73136048	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73136057	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73136060	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73138004	0.92[EUR][1000 genomes]
rs73138027	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138030	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138048	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138053	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138055	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138058	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73138063	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138082	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73140009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73140027	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73140032	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7432439	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7614892	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7629550	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7638009	0.91[ASN][1000 genomes]
rs7642785	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644946	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8179927	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs982291	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98615000-98620400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:98615600-98621200	Active TSS	NHLF	lung
3	chr3:98616600-98621400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:98616800-98621200	Active TSS	NHDF-Ad	bronchial
5	chr3:98617400-98621200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:98617400-98622000	Active TSS	Right Ventricle	heart
7	chr3:98617600-98621200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr3:98618200-98621800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr3:98618400-98621200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr3:98618400-98621200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr3:98618400-98621200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:98618400-98621200	Active TSS	Fetal Kidney	kidney
13	chr3:98618400-98621200	Active TSS	GM12878-XiMat	blood
14	chr3:98618400-98621400	Active TSS	Left Ventricle	heart
15	chr3:98618400-98621600	Active TSS	Right Atrium	heart
16	chr3:98618400-98621800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:98618600-98620000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr3:98618600-98621200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:98618600-98621400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:98618600-98621600	Active TSS	Ovary	ovary
21	chr3:98618600-98621800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr3:98618600-98621800	Active TSS	HSMMtube	muscle
23	chr3:98618800-98620000	Active TSS	Fetal Heart	heart
24	chr3:98618800-98620200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
25	chr3:98618800-98621200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:98618800-98621200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr3:98618800-98621200	Active TSS	Stomach Smooth Muscle	stomach
28	chr3:98618800-98621400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:98618800-98621600	Active TSS	Psoas Muscle	Psoas
30	chr3:98618800-98621800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr3:98618800-98622200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:98619000-98620000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:98619000-98621200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr3:98619000-98621200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr3:98619000-98621200	Active TSS	HSMM	muscle
36	chr3:98619000-98621600	Active TSS	Fetal Muscle Trunk	muscle
37	chr3:98619200-98620200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:98619200-98620200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr3:98619200-98620400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:98619200-98620800	Active TSS	HepG2	liver
41	chr3:98619200-98621200	Active TSS	Brain Substantia Nigra	brain
42	chr3:98619200-98621200	Active TSS	HMEC	breast
43	chr3:98619200-98621200	Active TSS	K562	blood
44	chr3:98619200-98621400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr3:98619200-98621600	Active TSS	H9 Cell Line	embryonic stem cell
46	chr3:98619200-98621600	Active TSS	Aorta	Aorta
47	chr3:98619400-98620000	Flanking Active TSS	Liver	Liver
48	chr3:98619400-98620000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr3:98619400-98620200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr3:98619400-98620200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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