Variant report

Variant	rs6951139
Chromosome Location	chr7:112758803-112758804
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	ZNF143	chr7:112758407-112758911	H1-hESC	embryonic stem cell:	n/a	chr7:112758633-112758651 chr7:112758633-112758642 chr7:112758635-112758644
2	MYC	chr7:112758315-112759020	K562	blood:	n/a	n/a
3	E2F4	chr7:112758470-112759111	MCF10A-Er-Src	breast:	n/a	chr7:112758473-112758482 chr7:112758651-112758661
4	HEY1	chr7:112758333-112759182	K562	blood:	n/a	n/a
5	MXI1	chr7:112758407-112758934	HepG2	liver:	n/a	n/a
6	GTF2F1	chr7:112758448-112759267	K562	blood:	n/a	n/a
7	POLR2A	chr7:112757859-112759112	K562	blood:	n/a	n/a
8	YY1	chr7:112758289-112758887	A549	lung:	n/a	chr7:112758654-112758668
9	SPI1	chr7:112758552-112758843	GM12878	blood:	n/a	n/a
10	TCF7L2	chr7:112758456-112758901	Hela-S3	cervix:	n/a	n/a
11	NFIC	chr7:112758242-112759042	GM12878	blood:	n/a	n/a
12	USF1	chr7:112758431-112758858	A549	lung:	n/a	n/a
13	POLR2A	chr7:112758403-112758887	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:112758278-112759070	GM12878	blood:	n/a	n/a
15	TAL1	chr7:112758446-112759021	K562	blood:	n/a	n/a
16	E2F6	chr7:112758514-112759170	A549	lung:	n/a	chr7:112758651-112758661
17	REST	chr7:112758417-112758823	A549	lung:	n/a	n/a
18	ZNF143	chr7:112758332-112759128	K562	blood:	n/a	chr7:112758633-112758651 chr7:112758633-112758642 chr7:112758635-112758644
19	SIX5	chr7:112758363-112758906	H1-hESC	embryonic stem cell:	n/a	chr7:112758631-112758645 chr7:112758633-112758642 chr7:112758635-112758644
20	YY1	chr7:112758173-112758847	GM12891	blood:	n/a	chr7:112758231-112758242 chr7:112758654-112758668
21	BHLHE40	chr7:112758493-112758928	HepG2	liver:	n/a	n/a
22	MAX	chr7:112758444-112759012	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr7:112758541-112758837	MCF-7	breast:	n/a	n/a
24	PML	chr7:112758259-112759130	K562	blood:	n/a	n/a
25	MAX	chr7:112758097-112759142	HCT-116	colon:	n/a	n/a
26	POLR2A	chr7:112758439-112758862	HepG2	liver:	n/a	n/a
27	MAX	chr7:112758539-112758924	H1-hESC	embryonic stem cell:	n/a	n/a
28	UBTF	chr7:112758405-112758952	K562	blood:	n/a	n/a
29	EGR1	chr7:112758083-112758868	K562	blood:	n/a	chr7:112758239-112758249 chr7:112758632-112758656 chr7:112758236-112758251 chr7:112758237-112758250 chr7:112758237-112758250
30	ELK1	chr7:112758352-112758867	GM12878	blood:	n/a	n/a
31	POLR2A	chr7:112758293-112759055	GM12892	blood:	n/a	n/a
32	YY1	chr7:112758101-112759164	SK-N-SH	brain:	n/a	chr7:112758231-112758242 chr7:112758654-112758668
33	POLR2A	chr7:112758462-112758862	A549	lung:	n/a	n/a
34	MYC	chr7:112758414-112758946	H1-hESC	embryonic stem cell:	n/a	n/a
35	EGR1	chr7:112758089-112758917	K562	blood:	n/a	chr7:112758239-112758249 chr7:112758632-112758656 chr7:112758236-112758251 chr7:112758237-112758250 chr7:112758237-112758250
36	EP300	chr7:112758385-112758909	HepG2	liver:	n/a	chr7:112758829-112758843 chr7:112758427-112758441 chr7:112758654-112758663 chr7:112758432-112758446
37	WRNIP1	chr7:112758434-112758948	GM12878	blood:	n/a	n/a
38	SPI1	chr7:112758403-112758976	HL-60	blood:	n/a	n/a
39	GTF2B	chr7:112758458-112759091	K562	blood:	n/a	n/a
40	POLR2A	chr7:112758330-112758948	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr7:112758370-112758972	HL-60	blood:	n/a	n/a
42	RFX5	chr7:112758388-112759176	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr7:112758349-112759154	MCF-7	breast:	n/a	n/a
44	MYBL2	chr7:112758279-112759069	HepG2	liver:	n/a	n/a
45	TEAD4	chr7:112758471-112758815	ECC-1	luminal epithelium:	n/a	n/a
46	TAF1	chr7:112758184-112759035	SK-N-SH	brain:	n/a	n/a
47	NFATC1	chr7:112758235-112758944	GM12878	blood:	n/a	n/a
48	CHD2	chr7:112758065-112759091	GM12878	blood:	n/a	n/a
49	BACH1	chr7:112758215-112759089	K562	blood:	n/a	n/a
50	USF1	chr7:112758440-112758956	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:112758800-112758850	HepG2	liver:	n/a
2	chr7:112758800-112758850	ECC-1	luminal epithelium:	n/a
3	chr7:112758800-112758850	HCF	heart:	n/a
4	chr7:112758800-112758850	HCM	heart:	n/a
5	chr7:112758800-112758850	HRPEpiC	eye:	n/a
6	chr7:112758800-112758850	AG09319	gingival:	n/a
7	chr7:112758800-112758850	HRE	kidney:	n/a
8	chr7:112758800-112758850	AoSMC	blood vessel:	n/a
9	chr7:112758800-112758850	MCF-7	breast:	n/a
10	chr7:112758800-112758850	AG09309	skin:	n/a
11	chr7:112758800-112758850	Hela-S3	cervix:	n/a
12	chr7:112758800-112758850	NHBE	bronchial:	n/a
13	chr7:112758800-112758850	AG04450	lung:	fetal
14	chr7:112758800-112758850	U87	brain:	n/a
15	chr7:112758800-112758850	GM06990	blood:	n/a
16	chr7:112758800-112758850	GM12878	blood:	n/a
17	chr7:112758800-112758850	HCPEpiC	choroid plexus:	n/a
18	chr7:112758800-112758850	PANC-1	pancreas:	n/a
19	chr7:112758800-112758850	CMK	blood:	n/a
20	chr7:112758800-112758850	IMR90	lung:	fetal
21	chr7:112758800-112758850	PFSK-1	brain:	n/a
22	chr7:112758800-112758850	A549	lung:	n/a
23	chr7:112758800-112758850	HPAEpiC	pulmonary alveolar:	n/a
24	chr7:112758800-112758850	LNCaP	prostate:	n/a
25	chr7:112758800-112758850	AG10803	skin:	n/a
26	chr7:112758800-112758850	T-47D	breast:	n/a
27	chr7:112758800-112758850	BJ	skin:	n/a
28	chr7:112758800-112758850	HAEpiC	amniotic membrane:	n/a
29	chr7:112758800-112758850	HMEC	breast:	n/a
30	chr7:112758800-112758850	NH-A	brain:	n/a
31	chr7:112758800-112758850	HNPCEpiC	eye:	n/a
32	chr7:112758800-112758850	NT2-D1	testis:	n/a
33	chr7:112758800-112758850	HRCEpiC	kidney:	n/a
34	chr7:112758800-112758850	GM12892	blood:	n/a
35	chr7:112758800-112758850	H1-hESC	embryonic stem cell:	embryo
36	chr7:112758800-112758850	RPTEC	kidney:	n/a
37	chr7:112758800-112758850	HIPEpiC	eye:	n/a
38	chr7:112758800-112758850	MCF10A-Er-Src	breast:	n/a
39	chr7:112758800-112758850	HUVEC	blood vessel:	n/a
40	chr7:112758800-112758850	SK-N-MC	brain:	n/a
41	chr7:112758800-112758850	SKMC	muscle:	n/a
42	chr7:112758800-112758850	GM19239	blood:	n/a
43	chr7:112758800-112758850	SAEC	small airway:	n/a
44	chr7:112758800-112758850	HCT-116	colon:	n/a
45	chr7:112758800-112758850	Jurkat	blood:	n/a
46	chr7:112758800-112758850	ProgFib	skin:	n/a
47	chr7:112758800-112758850	NHDF-neo	bronchial:	n/a
48	chr7:112758800-112758850	Caco-2	colon:	n/a
49	chr7:112758800-112758850	AG04449	skin:	fetal
50	chr7:112758800-112758850	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:112758684..112760391-chr7:112965987..112967563,2	K562	blood:
2	chr7:112725230..112728019-chr7:112757874..112760567,2	K562	blood:
3	chr7:112758801..112761604-chr7:112790975..112792913,2	K562	blood:
4	chr7:6616906..6617576-chr7:112758559..112759124,2	Hela-S3	cervix:
5	chr7:112758675..112760298-chr7:112794842..112798647,3	K562	blood:
6	chr7:112090464..112092274-chr7:112758271..112759774,2	K562	blood:

Variant related genes	Relation type
LINC00998	TF binding region
LINC00998	CpG island
ENSG00000006652	Chromatin interaction
ENSG00000164604	Chromatin interaction
ENSG00000136247	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs28392728	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6972406	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7788888	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7792704	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][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	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3355135	chr7:112616979-113134651	Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
4	nsv435847	chr7:112618576-113134022	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3430638	chr7:112620663-113134403	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3442221	chr7:112620665-113134971	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv993501	chr7:112625029-113125338	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1022066	chr7:112630168-113122748	Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539090	chr7:112630168-113122748	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv889059	chr7:112755548-112908788	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6951139	SYCE1	trans	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112757200-112759400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr7:112757400-112759000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:112757400-112759000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:112757400-112759000	Active TSS	HSMM	muscle
5	chr7:112757400-112759200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:112757400-112759200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:112757400-112759200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:112757400-112759200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:112757400-112759400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:112757400-112759400	Active TSS	NHDF-Ad	bronchial
11	chr7:112757600-112759000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:112757600-112759000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:112757600-112759000	Active TSS	Fetal Brain Female	brain
14	chr7:112757600-112759200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:112757600-112759200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:112757600-112759200	Active TSS	Left Ventricle	heart
17	chr7:112757600-112759400	Active TSS	Right Atrium	heart
18	chr7:112757600-112760000	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr7:112757800-112759000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:112757800-112759000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:112757800-112759000	Active TSS	Duodenum Mucosa	Duodenum
22	chr7:112757800-112759000	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr7:112757800-112759200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr7:112757800-112759200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:112757800-112759200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:112757800-112759200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:112757800-112759200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:112757800-112759200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr7:112757800-112759200	Active TSS	Fetal Muscle Trunk	muscle
30	chr7:112757800-112759200	Active TSS	Placenta	Placenta
31	chr7:112757800-112759200	Active TSS	Fetal Stomach	stomach
32	chr7:112757800-112759200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr7:112757800-112759200	Active TSS	Right Ventricle	heart
34	chr7:112757800-112759200	Active TSS	Stomach Smooth Muscle	stomach
35	chr7:112757800-112759200	Active TSS	K562	blood
36	chr7:112757800-112759400	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr7:112757800-112759400	Active TSS	Ovary	ovary
38	chr7:112757800-112759400	Active TSS	Psoas Muscle	Psoas
39	chr7:112757800-112759400	Active TSS	Rectal Smooth Muscle	rectum
40	chr7:112757800-112759600	Active TSS	HSMMtube	muscle
41	chr7:112758000-112759000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:112758000-112759000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:112758000-112759000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr7:112758000-112759000	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr7:112758000-112759000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:112758000-112759000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:112758000-112759000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:112758000-112759000	Active TSS	Colon Smooth Muscle	Colon
49	chr7:112758000-112759000	Active TSS	Fetal Kidney	kidney
50	chr7:112758000-112759000	Active TSS	Fetal Muscle Leg	muscle

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