Variant report

Variant	rs139599914
Chromosome Location	chr7:55954692-55954693
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr7:55954661-55955439	SK-N-SH	brain:	n/a	chr7:55955121-55955130 chr7:55955121-55955132
2	REST	chr7:55954413-55955646	H1-neurons	neurons:	n/a	chr7:55955623-55955632 chr7:55955623-55955636 chr7:55954895-55954904
3	YY1	chr7:55954513-55955504	SK-N-SH	brain:	n/a	chr7:55955106-55955120 chr7:55955003-55955017
4	POLR2A	chr7:55954673-55955476	SK-N-MC	brain:	n/a	n/a
5	MTA3	chr7:55954675-55955017	GM12878	blood:	n/a	n/a
6	YY1	chr7:55954646-55955405	GM12878	blood:	n/a	chr7:55955106-55955120 chr7:55955003-55955017
7	REST	chr7:55954667-55955321	SK-N-SH	brain:	n/a	chr7:55954895-55954904
8	POLR2A	chr7:55954642-55955471	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr7:55954646-55955391	SK-N-SH_RA	brain:	n/a	chr7:55955106-55955120 chr7:55955003-55955017
10	RFX5	chr7:55954346-55955468	SK-N-SH	brain:	n/a	chr7:55954891-55954906
11	MAZ	chr7:55954570-55955449	IMR90	lung:	n/a	n/a
12	NFYB	chr7:55954619-55955236	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:55954647-55954697	AG10803	skin:	n/a
2	chr7:55954647-55954697	HepG2	liver:	n/a
3	chr7:55954647-55954697	HEK293	kidney:	embryo
4	chr7:55954647-55954697	AG09309	skin:	n/a
5	chr7:55954647-55954697	K562	blood:	n/a
6	chr7:55954647-55954697	HUVEC	blood vessel:	n/a
7	chr7:55954647-55954697	HRE	kidney:	n/a
8	chr7:55954647-55954697	MCF-7	breast:	n/a
9	chr7:55954647-55954697	NHDF-neo	bronchial:	n/a
10	chr7:55954647-55954697	PFSK-1	brain:	n/a
11	chr7:55954647-55954697	HNPCEpiC	eye:	n/a
12	chr7:55954647-55954697	HRCEpiC	kidney:	n/a
13	chr7:55954647-55954697	RPTEC	kidney:	n/a
14	chr7:55954647-55954697	HMEC	breast:	n/a
15	chr7:55954647-55954697	HL-60	blood:	n/a
16	chr7:55954647-55954697	HEEpiC	esophagus:	n/a
17	chr7:55954647-55954697	BJ	skin:	n/a
18	chr7:55954647-55954697	SK-N-SH	brain:	n/a
19	chr7:55954647-55954697	NHBE	bronchial:	n/a
20	chr7:55954647-55954697	CMK	blood:	n/a
21	chr7:55954647-55954697	HCT-116	colon:	n/a
22	chr7:55954647-55954697	GM12891	blood:	n/a
23	chr7:55954647-55954697	A549	lung:	n/a
24	chr7:55954647-55954697	AoSMC	blood vessel:	n/a
25	chr7:55954647-55954697	SKMC	muscle:	n/a
26	chr7:55954647-55954697	BE2_C	brain:	n/a
27	chr7:55954647-55954697	HRPEpiC	eye:	n/a
28	chr7:55954647-55954697	MCF10A-Er-Src	breast:	n/a
29	chr7:55954647-55954697	GM06990	blood:	n/a
30	chr7:55954647-55954697	NT2-D1	testis:	n/a
31	chr7:55954647-55954697	U87	brain:	n/a
32	chr7:55954647-55954697	NB4	blood:	n/a
33	chr7:55954647-55954697	AG04449	skin:	fetal
34	chr7:55954647-55954697	HCF	heart:	n/a
35	chr7:55954647-55954697	ECC-1	luminal epithelium:	n/a
36	chr7:55954647-55954697	PANC-1	pancreas:	n/a
37	chr7:55954647-55954697	Jurkat	blood:	n/a
38	chr7:55954647-55954697	T-47D	breast:	n/a
39	chr7:55954647-55954697	LNCaP	prostate:	n/a
40	chr7:55954647-55954697	GM12878	blood:	n/a
41	chr7:55954647-55954697	HPAEpiC	pulmonary alveolar:	n/a
42	chr7:55954647-55954697	HCPEpiC	choroid plexus:	n/a
43	chr7:55954647-55954697	ovcar-3	ovarian:	n/a
44	chr7:55954647-55954697	SK-N-MC	brain:	n/a
45	chr7:55954647-55954697	Hepatocyte	liver:	n/a
46	chr7:55954647-55954697	HAEpiC	amniotic membrane:	n/a
47	chr7:55954647-55954697	GM12892	blood:	n/a
48	chr7:55954647-55954697	AG04450	lung:	fetal
49	chr7:55954647-55954697	H1-hESC	embryonic stem cell:	embryo
50	chr7:55954647-55954697	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:55953245..55956784-chr7:55957115..55962697,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249773	TF binding region
ZNF713	TF binding region
ZNF713	CpG island
ENSG00000249773	CpG island
ENSG00000265676	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv427782	chr7:55703073-56010314	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
8	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	71 gene(s)	inside rSNPs	diseases
10	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
11	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
13	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
14	esv3395123	chr7:55954408-55956456	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55954400-55955800	Active TSS	Primary T cells from cord blood	blood
2	chr7:55954400-55955800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:55954400-55955800	Active TSS	Fetal Brain Female	brain
4	chr7:55954400-55956000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:55954400-55956000	Active TSS	Brain Anterior Caudate	brain
6	chr7:55954400-55956000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:55954400-55956200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:55954400-55956200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:55954400-55956200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:55954400-55956200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:55954400-55956200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:55954400-55956200	Active TSS	Rectal Smooth Muscle	rectum
13	chr7:55954400-55956400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:55954400-55956400	Active TSS	A549	lung
15	chr7:55954400-55956600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:55954400-55956600	Active TSS	Brain Germinal Matrix	brain
17	chr7:55954600-55954800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:55954600-55954800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:55954600-55954800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr7:55954600-55954800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:55954600-55954800	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr7:55954600-55954800	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr7:55954600-55954800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr7:55954600-55954800	Active TSS	Right Atrium	heart
25	chr7:55954600-55954800	Enhancers	Stomach Mucosa	stomach
26	chr7:55954600-55954800	Flanking Active TSS	Spleen	Spleen
27	chr7:55954600-55954800	Flanking Active TSS	Hela-S3	cervix
28	chr7:55954600-55954800	Flanking Active TSS	HepG2	liver
29	chr7:55954600-55954800	Flanking Active TSS	K562	blood
30	chr7:55954600-55955000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr7:55954600-55955000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr7:55954600-55955000	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr7:55954600-55955000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr7:55954600-55955000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:55954600-55955000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr7:55954600-55955000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr7:55954600-55955000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:55954600-55955000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:55954600-55955000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr7:55954600-55955000	Active TSS	Fetal Heart	heart
41	chr7:55954600-55955000	Flanking Active TSS	Placenta	Placenta
42	chr7:55954600-55955000	Flanking Active TSS	Dnd41	blood
43	chr7:55954600-55955000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr7:55954600-55955200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:55954600-55955600	Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr7:55954600-55955800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:55954600-55955800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:55954600-55955800	Active TSS	Primary monocytes fromperipheralblood	blood
49	chr7:55954600-55955800	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr7:55954600-55955800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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