Variant report

Variant	rs3750620
Chromosome Location	chr10:112679121-112679122
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:452)
CpG islands
(count:183)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr10:112678161-112679755	ECC-1	luminal epithelium:	n/a	chr10:112678465-112678474
2	TAF1	chr10:112678116-112679167	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr10:112677940-112679208	U87	brain:	n/a	n/a
4	MAX	chr10:112678133-112679130	A549	lung:	n/a	n/a
5	RCOR1	chr10:112678156-112679588	K562	blood:	n/a	n/a
6	YY1	chr10:112678892-112679121	K562	blood:	n/a	n/a
7	EGR1	chr10:112678270-112679217	H1-hESC	embryonic stem cell:	n/a	chr10:112678304-112678317 chr10:112678304-112678317 chr10:112678300-112678322 chr10:112678304-112678318 chr10:112678305-112678316 chr10:112678456-112678465 chr10:112678306-112678316
8	YY1	chr10:112678267-112679171	GM12892	blood:	n/a	chr10:112678465-112678474
9	SPI1	chr10:112678831-112679205	K562	blood:	n/a	chr10:112679162-112679175
10	GABPA	chr10:112678108-112679344	A549	lung:	n/a	n/a
11	IRF1	chr10:112678081-112679202	K562	blood:	n/a	chr10:112678359-112678373 chr10:112679118-112679127
12	POLR2A	chr10:112677286-112679707	MCF10A-Er-Src	breast:	n/a	n/a
13	SMC3	chr10:112679031-112679212	K562	blood:	n/a	n/a
14	POLR2A	chr10:112678059-112679712	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr10:112678209-112679240	GM12878	blood:	n/a	n/a
16	TAF1	chr10:112678037-112679803	ECC-1	luminal epithelium:	n/a	n/a
17	CEBPB	chr10:112678213-112679549	Hela-S3	cervix:	n/a	n/a
18	PML	chr10:112678079-112679284	MCF-7	breast:	n/a	n/a
19	YY1	chr10:112678169-112679260	GM12878	blood:	n/a	chr10:112678465-112678474
20	GABPA	chr10:112678284-112679283	HepG2	liver:	n/a	n/a
21	RELA	chr10:112678080-112679554	GM10847	blood:	n/a	n/a
22	SIX5	chr10:112678743-112679208	GM12878	blood:	n/a	n/a
23	POU2F2	chr10:112677960-112679274	GM12878	blood:	n/a	n/a
24	EP300	chr10:112678299-112679199	HepG2	liver:	n/a	chr10:112678705-112678712
25	TAF1	chr10:112678163-112679192	Hela-S3	cervix:	n/a	n/a
26	MAX	chr10:112678119-112679626	NB4	blood:	n/a	n/a
27	ELF1	chr10:112678178-112679653	MCF-7	breast:	n/a	chr10:112678705-112678714
28	POLR2A	chr10:112677941-112679250	PANC-1	pancreas:	n/a	n/a
29	SP1	chr10:112678771-112679620	GM12878	blood:	n/a	chr10:112679254-112679268 chr10:112679244-112679256 chr10:112679164-112679185 chr10:112679251-112679260 chr10:112679244-112679256 chr10:112679241-112679255 chr10:112679251-112679260 chr10:112679245-112679255 chr10:112679250-112679259 chr10:112679246-112679255
30	STAT3	chr10:112678763-112679141	GM12878	blood:	n/a	n/a
31	FOS	chr10:112678827-112679193	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr10:112678150-112679838	GM19099	blood:	n/a	n/a
33	EP300	chr10:112678853-112679254	SK-N-SH_RA	brain:	n/a	n/a
34	THAP1	chr10:112678811-112679251	K562	blood:	n/a	n/a
35	YY1	chr10:112678134-112679653	HCT-116	colon:	n/a	chr10:112678465-112678474
36	POLR2A	chr10:112678051-112679648	HepG2	liver:	n/a	n/a
37	SIN3AK20	chr10:112677956-112680323	MCF-7	breast:	n/a	n/a
38	ATF1	chr10:112678460-112679251	K562	blood:	n/a	n/a
39	RELA	chr10:112677966-112679552	GM19099	blood:	n/a	n/a
40	RCOR1	chr10:112678384-112679187	K562	blood:	n/a	n/a
41	RCOR1	chr10:112678068-112679620	Hela-S3	cervix:	n/a	n/a
42	MYC	chr10:112678235-112679229	K562	blood:	n/a	n/a
43	POLR2A	chr10:112678173-112679733	H1-neurons	neurons:	n/a	n/a
44	ELF1	chr10:112678240-112679220	HepG2	liver:	n/a	chr10:112678705-112678714
45	SIN3A	chr10:112678025-112680453	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr10:112677540-112680807	H1-hESC	embryonic stem cell:	n/a	n/a
47	SRF	chr10:112678153-112679288	MCF-7	breast:	n/a	chr10:112679249-112679259 chr10:112678209-112678227 chr10:112678676-112678694
48	POLR2A	chr10:112678183-112679729	A549	lung:	n/a	n/a
49	TAF7	chr10:112678268-112679198	H1-hESC	embryonic stem cell:	n/a	n/a
50	SIX5	chr10:112678237-112679202	A549	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:112679113-112679163	NB4	blood:	n/a
2	chr10:112679103-112679153	AG09319	gingival:	n/a
3	chr10:112679103-112679153	IMR90	lung:	fetal
4	chr10:112679103-112679153	AG09309	skin:	n/a
5	chr10:112679110-112679160	MCF-7	breast:	n/a
6	chr10:112679110-112679160	H1-hESC	embryonic stem cell:	embryo
7	chr10:112679103-112679153	PrEC	prostate:	n/a
8	chr10:112679110-112679160	HPAEpiC	pulmonary alveolar:	n/a
9	chr10:112679110-112679160	SAEC	small airway:	n/a
10	chr10:112679103-112679153	U87	brain:	n/a
11	chr10:112679110-112679160	HepG2	liver:	n/a
12	chr10:112679110-112679160	GM12891	blood:	n/a
13	chr10:112679110-112679160	HCT-116	colon:	n/a
14	chr10:112679113-112679163	GM12892	blood:	n/a
15	chr10:112679103-112679153	HRPEpiC	eye:	n/a
16	chr10:112679103-112679153	HCPEpiC	choroid plexus:	n/a
17	chr10:112679110-112679160	GM06990	blood:	n/a
18	chr10:112679103-112679153	HRE	kidney:	n/a
19	chr10:112679113-112679163	GM12878	blood:	n/a
20	chr10:112679113-112679163	GM12891	blood:	n/a
21	chr10:112679113-112679163	HRCEpiC	kidney:	n/a
22	chr10:112679103-112679153	T-47D	breast:	n/a
23	chr10:112679113-112679163	PFSK-1	brain:	n/a
24	chr10:112679113-112679163	PANC-1	pancreas:	n/a
25	chr10:112679103-112679153	A549	lung:	n/a
26	chr10:112679110-112679160	HCF	heart:	n/a
27	chr10:112679103-112679153	NT2-D1	testis:	n/a
28	chr10:112679103-112679153	SAEC	small airway:	n/a
29	chr10:112679110-112679160	HCPEpiC	choroid plexus:	n/a
30	chr10:112679113-112679163	Caco-2	colon:	n/a
31	chr10:112679113-112679163	Hepatocyte	liver:	n/a
32	chr10:112679110-112679160	SK-N-MC	brain:	n/a
33	chr10:112679103-112679153	HEK293	kidney:	embryo
34	chr10:112679103-112679153	RPTEC	kidney:	n/a
35	chr10:112679110-112679160	AoSMC	blood vessel:	n/a
36	chr10:112679103-112679153	MCF10A-Er-Src	breast:	n/a
37	chr10:112679103-112679153	GM12878	blood:	n/a
38	chr10:112679110-112679160	GM19239	blood:	n/a
39	chr10:112679103-112679153	HIPEpiC	eye:	n/a
40	chr10:112679110-112679160	GM12878	blood:	n/a
41	chr10:112679103-112679153	HEEpiC	esophagus:	n/a
42	chr10:112679110-112679160	PFSK-1	brain:	n/a
43	chr10:112679110-112679160	T-47D	breast:	n/a
44	chr10:112679113-112679163	SK-N-MC	brain:	n/a
45	chr10:112679113-112679163	CMK	blood:	n/a
46	chr10:112679113-112679163	U87	brain:	n/a
47	chr10:112679103-112679153	GM19239	blood:	n/a
48	chr10:112679103-112679153	HNPCEpiC	eye:	n/a
49	chr10:112679113-112679163	PrEC	prostate:	n/a
50	chr10:112679103-112679153	ECC-1	luminal epithelium:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:112678753..112679731-chr15:72766280..72767015,2	Hela-S3	cervix:
2	chr1:245027659..245028186-chr10:112678315..112679139,2	Hela-S3	cervix:
3	chr10:112654963..112658264-chr10:112677155..112680097,3	MCF-7	breast:
4	chr10:112630522..112633740-chr10:112677502..112680452,8	K562	blood:
5	chr10:112677742..112679922-chr10:112696330..112699215,3	K562	blood:
6	chr10:112664345..112669629-chr10:112675236..112680543,10	K562	blood:
7	chr10:112675807..112678772-chr10:112678882..112681031,3	MCF-7	breast:
8	chr10:112678657..112679724-chr17:48943326..48944208,3	Hela-S3	cervix:
9	chr10:112514937..112517303-chr10:112677339..112679296,2	K562	blood:
10	chr10:112678574..112679335-chr14:74416633..74417220,2	Hela-S3	cervix:
11	chr1:25664559..25665329-chr10:112678202..112679188,2	HCT-116	colon:
12	chr10:112404113..112406427-chr10:112678273..112680530,3	K562	blood:
13	chr10:112630838..112635784-chr10:112676837..112681433,10	K562	blood:
14	chr10:112678637..112679593-chr3:101405050..101405570,2	NB4	blood:
15	chr10:112677485..112680905-chr10:112696350..112700143,5	K562	blood:

No data

Variant related genes	Relation type
SHOC2	TF binding region
BBIP1	TF binding region
SHOC2	CpG island
BBIP1	CpG island
ENSG00000214413	Chromatin interaction
ENSG00000234118	Chromatin interaction
ENSG00000114391	Chromatin interaction
ENSG00000203497	Chromatin interaction
ENSG00000183726	Chromatin interaction
ENSG00000265827	Chromatin interaction
ENSG00000117616	Chromatin interaction
ENSG00000153187	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000203867	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000252036	Chromatin interaction
ENSG00000156050	Chromatin interaction
ENSG00000119723	Chromatin interaction
ENSG00000273175	Chromatin interaction
ENSG00000150593	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10509932	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1052550	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10732804	0.89[EUR][1000 genomes]
rs10749055	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10749056	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10787296	0.89[EUR][1000 genomes]
rs1571240	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128095	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17128168	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128194	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2273934	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs44336	0.84[EUR][1000 genomes]
rs4545475	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4918615	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6585023	0.91[ASN][1000 genomes]
rs6585028	0.89[EUR][1000 genomes]
rs7913363	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1035602	chr10:112636053-112781413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1051327	chr10:112650316-112772917	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv540774	chr10:112650316-112772917	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1047865	chr10:112660427-112730573	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr10:112677400-112681000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr10:112677400-112681200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr10:112677400-112681200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:112677400-112684000	Active TSS	GM12878-XiMat	blood
5	chr10:112677600-112680400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:112677600-112680400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:112677600-112680800	Active TSS	Aorta	Aorta
8	chr10:112677600-112680800	Active TSS	Psoas Muscle	Psoas
9	chr10:112677600-112681000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr10:112677600-112681000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:112677600-112681000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:112677600-112681000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:112677600-112681000	Active TSS	Colonic Mucosa	Colon
14	chr10:112677600-112681000	Active TSS	Fetal Stomach	stomach
15	chr10:112677600-112681000	Active TSS	Fetal Thymus	thymus
16	chr10:112677600-112681000	Active TSS	Right Atrium	heart
17	chr10:112677600-112681000	Active TSS	Right Ventricle	heart
18	chr10:112677600-112681200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr10:112677600-112682000	Active TSS	NHLF	lung
20	chr10:112677800-112680600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:112677800-112680600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:112677800-112680800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:112677800-112680800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr10:112677800-112680800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:112677800-112680800	Active TSS	Fetal Muscle Trunk	muscle
26	chr10:112677800-112680800	Active TSS	Fetal Muscle Leg	muscle
27	chr10:112677800-112680800	Active TSS	Placenta	Placenta
28	chr10:112677800-112680800	Active TSS	Ovary	ovary
29	chr10:112677800-112680800	Active TSS	HMEC	breast
30	chr10:112677800-112681000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr10:112677800-112681000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:112677800-112681000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:112677800-112681000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:112677800-112681000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:112677800-112681000	Active TSS	Fetal Intestine Large	intestine
36	chr10:112677800-112681000	Active TSS	Thymus	Thymus
37	chr10:112677800-112681400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr10:112677800-112681400	Active TSS	A549	lung
39	chr10:112677800-112681600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr10:112677800-112681600	Active TSS	K562	blood
41	chr10:112678000-112679200	Bivalent/Poised TSS	HepG2	liver
42	chr10:112678000-112679800	Active TSS	Brain Germinal Matrix	brain
43	chr10:112678000-112680000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:112678000-112680000	Active TSS	Brain Angular Gyrus	brain
45	chr10:112678000-112680000	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr10:112678000-112680200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr10:112678000-112680200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr10:112678000-112680200	Active TSS	Brain Hippocampus Middle	brain
49	chr10:112678000-112680200	Active TSS	Fetal Kidney	kidney
50	chr10:112678000-112680200	Active TSS	Fetal Lung	lung

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