Variant report

Variant	rs3748655
Chromosome Location	chr1:113217311-113217312
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:329)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:329 , 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	chr1:113215908-113217927	HL-60	blood:	n/a	n/a
2	POLR2A	chr1:113215591-113217660	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr1:113216855-113217623	ECC-1	luminal epithelium:	n/a	chr1:113217221-113217238
4	GTF2F1	chr1:113217006-113217444	K562	blood:	n/a	n/a
5	SMC3	chr1:113216216-113218447	Hela-S3	cervix:	n/a	chr1:113216403-113216411
6	TAF1	chr1:113216747-113217707	ECC-1	luminal epithelium:	n/a	n/a
7	YY1	chr1:113216874-113218082	GM12892	blood:	n/a	chr1:113217815-113217826 chr1:113217977-113217991 chr1:113218012-113218023
8	KAP1	chr1:113216276-113217518	HEK293	kidney:	n/a	n/a
9	NFATC1	chr1:113215756-113217662	GM12878	blood:	n/a	n/a
10	ZNF143	chr1:113216801-113217424	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3AK20	chr1:113216688-113217682	SK-N-SH	brain:	n/a	n/a
12	TCF12	chr1:113216807-113217721	ECC-1	luminal epithelium:	n/a	n/a
13	EP300	chr1:113216792-113217380	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:113216721-113218097	GM15510	blood:	n/a	n/a
15	POLR2A	chr1:113214019-113219584	K562	blood:	n/a	n/a
16	BCLAF1	chr1:113215699-113217809	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:113215898-113218174	GM12892	blood:	n/a	n/a
18	TAF1	chr1:113216761-113217698	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr1:113217275-113218058	MCF-7	breast:	n/a	n/a
20	SIN3AK20	chr1:113216798-113218118	PANC-1	pancreas:	n/a	n/a
21	EP300	chr1:113217163-113217666	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:113215444-113217912	U87	brain:	n/a	n/a
23	TAF1	chr1:113216915-113218178	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:113216678-113218324	GM12878	blood:	n/a	n/a
25	JUND	chr1:113216720-113217486	A549	lung:	n/a	chr1:113217100-113217114
26	MYC	chr1:113216855-113218212	K562	blood:	n/a	chr1:113217831-113217840
27	YY1	chr1:113216820-113218347	K562	blood:	n/a	chr1:113217815-113217826 chr1:113217977-113217991 chr1:113218012-113218023
28	POLR2A	chr1:113216651-113218496	SK-N-MC	brain:	n/a	n/a
29	BCLAF1	chr1:113216652-113217950	GM12878	blood:	n/a	chr1:113217801-113217810
30	MAX	chr1:113216989-113218001	ECC-1	luminal epithelium:	n/a	chr1:113217831-113217840
31	RUNX3	chr1:113216520-113217788	GM12878	blood:	n/a	n/a
32	MXI1	chr1:113216817-113218781	HepG2	liver:	n/a	n/a
33	POLR2A	chr1:113216124-113217725	HUVEC	blood vessel:	n/a	n/a
34	YY1	chr1:113217271-113217740	GM12891	blood:	n/a	n/a
35	TAF1	chr1:113217248-113217738	A549	lung:	n/a	n/a
36	POLR2A	chr1:113214953-113217727	GM12891	blood:	n/a	n/a
37	MYC	chr1:113216256-113218203	K562	blood:	n/a	chr1:113217831-113217840
38	BCL3	chr1:113216267-113217587	K562	blood:	n/a	n/a
39	YY1	chr1:113216864-113217515	GM12878	blood:	n/a	n/a
40	MXI1	chr1:113217132-113217478	H1-hESC	embryonic stem cell:	n/a	n/a
41	ATF2	chr1:113216632-113217315	H1-hESC	embryonic stem cell:	n/a	n/a
42	TCF12	chr1:113216741-113218341	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr1:113215876-113218410	Hela-S3	cervix:	n/a	n/a
44	TBP	chr1:113217270-113217640	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:113215547-113218210	K562	blood:	n/a	n/a
46	TAF7	chr1:113216858-113218200	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:113215875-113218128	GM12878	blood:	n/a	n/a
48	MAX	chr1:113216903-113217962	A549	lung:	n/a	chr1:113217831-113217840
49	TEAD4	chr1:113215431-113219568	K562	blood:	n/a	n/a
50	POU2F2	chr1:113216652-113217656	GM12891	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113201703..113204472-chr1:113215980..113217663,2	MCF-7	breast:
2	chr1:113162051..113162904-chr1:113216304..113217427,3	MCF-7	breast:
3	chr1:113161265..113161861-chr1:113216971..113217898,2	MCF-7	breast:
4	chr1:113201056..113203899-chr1:113214909..113217826,3	MCF-7	breast:
5	chr1:113005689..113009641-chr1:113216362..113218803,3	MCF-7	breast:
6	chr1:113215712..113221627-chr1:113253708..113259381,5	MCF-7	breast:
7	chr1:113158395..113164969-chr1:113214433..113222934,24	MCF-7	breast:
8	chr1:113215800..113219074-chr1:113254460..113258669,6	MCF-7	breast:
9	chr1:113175098..113177937-chr1:113216084..113219096,3	K562	blood:
10	chr1:113166898..113170034-chr1:113215847..113218393,3	K562	blood:
11	chr1:113215224..113219998-chr1:113238829..113244717,20	MCF-7	breast:
12	chr1:113216965..113217848-chr2:47630092..47631029,2	Hela-S3	cervix:
13	chr1:113214782..113217536-chr1:113235013..113236894,2	K562	blood:
14	chr1:113166898..113170034-chr1:113215847..113218530,3	K562	blood:
15	chr1:113160799..113166409-chr1:113215716..113220433,9	K562	blood:
16	chr1:113160457..113163834-chr1:113216051..113218044,4	K562	blood:
17	chr1:113214002..113222947-chr1:113236890..113251579,47	MCF-7	breast:
18	chr1:113216859..113217827-chr1:113249275..113250031,2	MCF-7	breast:
19	chr1:113208980..113212025-chr1:113215390..113218147,4	MCF-7	breast:
20	chr1:113214590..113222957-chr1:113244863..113253590,39	MCF-7	breast:
21	chr1:113157097..113164348-chr1:113214570..113220795,12	MCF-7	breast:
22	chr1:113217131..113217743-chr17:16341573..16342194,2	Hela-S3	cervix:
23	chr1:113214866..113222565-chr1:113237012..113253952,54	K562	blood:

No data

Variant related genes	Relation type
MOV10	TF binding region
ENSG00000155367	Chromatin interaction
ENSG00000155363	Chromatin interaction
ENSG00000095002	Chromatin interaction
ENSG00000235299	Chromatin interaction
ENSG00000271810	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000261595	Chromatin interaction
ENSG00000155366	Chromatin interaction
ENSG00000225075	Chromatin interaction
ENSG00000252750	Chromatin interaction
ENSG00000134245	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12730156	0.81[AMR][1000 genomes]
rs2370886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3790598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3790608	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
5	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3748655	ST7L	Cis_1M	lymphoblastoid	RTeQTL
rs3748655	ST7L	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113216400-113218200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:113216400-113218200	Active TSS	NHDF-Ad	bronchial
3	chr1:113216600-113217400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:113216600-113217400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:113216600-113217400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:113216600-113218200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:113216600-113218200	Active TSS	Colonic Mucosa	Colon
8	chr1:113216600-113218200	Active TSS	Esophagus	oesophagus
9	chr1:113216600-113218600	Active TSS	Ovary	ovary
10	chr1:113216600-113218600	Active TSS	Right Ventricle	heart
11	chr1:113216800-113217600	Flanking Active TSS	Fetal Brain Male	brain
12	chr1:113216800-113218000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:113216800-113218000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr1:113216800-113218000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:113216800-113218000	Active TSS	Placenta Amnion	Placenta Amnion
16	chr1:113216800-113218000	Transcr. at gene 5' and 3'	Right Atrium	heart
17	chr1:113216800-113218200	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:113216800-113218200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:113216800-113218200	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr1:113216800-113218200	Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:113216800-113218200	Active TSS	Rectal Smooth Muscle	rectum
22	chr1:113216800-113218400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:113216800-113218400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:113216800-113218400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:113216800-113218400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:113216800-113218400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:113216800-113218400	Active TSS	Aorta	Aorta
28	chr1:113216800-113218400	Active TSS	Colon Smooth Muscle	Colon
29	chr1:113216800-113218400	Active TSS	Fetal Intestine Large	intestine
30	chr1:113216800-113218400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr1:113216800-113218400	Active TSS	Psoas Muscle	Psoas
32	chr1:113216800-113218400	Active TSS	A549	lung
33	chr1:113216800-113218600	Active TSS	Fetal Kidney	kidney
34	chr1:113216800-113218600	Active TSS	Lung	lung
35	chr1:113216800-113218800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:113217000-113217400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:113217000-113217600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:113217000-113217600	Active TSS	Fetal Heart	heart
39	chr1:113217000-113218000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:113217000-113218000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr1:113217000-113218000	Active TSS	Stomach Smooth Muscle	stomach
42	chr1:113217000-113218000	Active TSS	NHEK	skin
43	chr1:113217000-113218200	Active TSS	H1 Cell Line	embryonic stem cell
44	chr1:113217000-113218200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:113217000-113218200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:113217000-113218200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:113217000-113218200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:113217000-113218200	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:113217000-113218200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr1:113217000-113218200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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