Variant report

Variant	rs4958985
Chromosome Location	chr5:177366446-177366447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:177366374-177366688	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr5:177366261-177366609	HCT-116	colon:	n/a	n/a
3	POLR2A	chr5:177366085-177366881	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr5:177366387-177366777	PANC-1	pancreas:	n/a	n/a
5	NRF1	chr5:177366300-177366767	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr5:177366242-177366761	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr5:177366122-177366921	MCF-7	breast:	n/a	n/a
8	POLR2A	chr5:177366249-177366757	A549	lung:	n/a	n/a
9	MYC	chr5:177366274-177366906	MCF-7	breast:	n/a	n/a
10	HA-E2F1	chr5:177366104-177366708	MCF-7	breast:	n/a	n/a
11	POLR2A	chr5:177366248-177366793	A549	lung:	n/a	n/a
12	POLR2A	chr5:177366220-177366609	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr5:177366310-177366690	HCT-116	colon:	n/a	n/a
14	MXI1	chr5:177366212-177366804	SK-N-SH	brain:	n/a	n/a
15	MYC	chr5:177366202-177366939	MCF-7	breast:	n/a	n/a
16	MYC	chr5:177366332-177366675	MCF-7	breast:	n/a	n/a
17	POLR2A	chr5:177366279-177366647	Hela-S3	cervix:	n/a	n/a
18	MYC	chr5:177366437-177366612	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr5:177366151-177366885	A549	lung:	n/a	n/a
20	POLR2A	chr5:177366153-177366888	MCF-7	breast:	n/a	n/a
21	POLR2A	chr5:177366193-177366802	A549	lung:	n/a	n/a
22	POLR2A	chr5:177366301-177366767	A549	lung:	n/a	n/a
23	POLR2A	chr5:177366194-177366853	ProgFib	skin:	n/a	n/a
24	POLR2A	chr5:177366130-177366794	Gliobla	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177366442-177366492	HUVEC	blood vessel:	n/a
2	chr5:177366442-177366492	HCPEpiC	choroid plexus:	n/a
3	chr5:177366442-177366492	LNCaP	prostate:	n/a
4	chr5:177366442-177366492	HPAEpiC	pulmonary alveolar:	n/a
5	chr5:177366442-177366492	HRPEpiC	eye:	n/a
6	chr5:177366442-177366492	BJ	skin:	n/a
7	chr5:177366442-177366492	HCT-116	colon:	n/a
8	chr5:177366442-177366492	ECC-1	luminal epithelium:	n/a
9	chr5:177366442-177366492	NH-A	brain:	n/a
10	chr5:177366442-177366492	HAEpiC	amniotic membrane:	n/a
11	chr5:177366442-177366492	HCF	heart:	n/a
12	chr5:177366442-177366492	CMK	blood:	n/a
13	chr5:177366442-177366492	AoSMC	blood vessel:	n/a
14	chr5:177366442-177366492	PFSK-1	brain:	n/a
15	chr5:177366442-177366492	SAEC	small airway:	n/a
16	chr5:177366442-177366492	HIPEpiC	eye:	n/a
17	chr5:177366442-177366492	HMEC	breast:	n/a
18	chr5:177366442-177366492	MCF10A-Er-Src	breast:	n/a
19	chr5:177366442-177366492	HL-60	blood:	n/a
20	chr5:177366442-177366492	NHDF-neo	bronchial:	n/a
21	chr5:177366442-177366492	ProgFib	skin:	n/a
22	chr5:177366442-177366492	IMR90	lung:	fetal
23	chr5:177366442-177366492	HNPCEpiC	eye:	n/a
24	chr5:177366442-177366492	HCM	heart:	n/a
25	chr5:177366442-177366492	Jurkat	blood:	n/a
26	chr5:177366442-177366492	Caco-2	colon:	n/a
27	chr5:177366442-177366492	AG04449	skin:	fetal
28	chr5:177366442-177366492	GM19239	blood:	n/a
29	chr5:177366442-177366492	U87	brain:	n/a
30	chr5:177366442-177366492	SK-N-MC	brain:	n/a
31	chr5:177366442-177366492	A549	lung:	n/a
32	chr5:177366442-177366492	Hela-S3	cervix:	n/a
33	chr5:177366442-177366492	SK-N-SH	brain:	n/a
34	chr5:177366442-177366492	AG10803	skin:	n/a
35	chr5:177366442-177366492	AG09319	gingival:	n/a
36	chr5:177366442-177366492	NT2-D1	testis:	n/a
37	chr5:177366442-177366492	HepG2	liver:	n/a
38	chr5:177366442-177366492	PANC-1	pancreas:	n/a
39	chr5:177366442-177366492	SK-N-SH_RA	brain:	n/a
40	chr5:177366442-177366492	GM12892	blood:	n/a
41	chr5:177366442-177366492	AG09309	skin:	n/a
42	chr5:177366442-177366492	GM12891	blood:	n/a
43	chr5:177366442-177366492	HEK293	kidney:	embryo
44	chr5:177366442-177366492	MCF-7	breast:	n/a
45	chr5:177366442-177366492	NHBE	bronchial:	n/a
46	chr5:177366442-177366492	PrEC	prostate:	n/a
47	chr5:177366442-177366492	BE2_C	brain:	n/a
48	chr5:177366442-177366492	NB4	blood:	n/a
49	chr5:177366442-177366492	RPTEC	kidney:	n/a
50	chr5:177366442-177366492	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000250101	TF binding region
ENSG00000250101	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
2	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv1033211	chr5:177133646-177383386	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv883184	chr5:177311043-177488281	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv883185	chr5:177357964-177401509	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv521629	chr5:177364884-177396200	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3377185	chr5:177365371-177368219	Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177365600-177366800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr5:177365600-177366800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:177365600-177366800	Enhancers	Primary B cells from cord blood	blood
4	chr5:177365600-177367000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:177365600-177368200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr5:177365800-177366600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr5:177365800-177367000	Active TSS	Brain Germinal Matrix	brain
8	chr5:177365800-177367200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr5:177365800-177367200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr5:177365800-177367200	Active TSS	Muscle Satellite Cultured Cells	--
11	chr5:177365800-177367200	Bivalent Enhancer	Fetal Thymus	thymus
12	chr5:177365800-177367400	Active TSS	NHLF	lung
13	chr5:177366000-177366600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:177366000-177366600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:177366000-177366800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr5:177366000-177366800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:177366000-177366800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:177366000-177366800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:177366000-177366800	Active TSS	Duodenum Mucosa	Duodenum
20	chr5:177366000-177366800	Active TSS	HSMMtube	muscle
21	chr5:177366000-177367000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr5:177366000-177367000	Active TSS	HMEC	breast
23	chr5:177366000-177367000	Active TSS	Osteobl	bone
24	chr5:177366000-177367200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:177366000-177367200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:177366000-177367200	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr5:177366000-177367200	Active TSS	A549	lung
28	chr5:177366000-177367200	Active TSS	HSMM	muscle
29	chr5:177366000-177367200	Active TSS	NHDF-Ad	bronchial
30	chr5:177366000-177371200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr5:177366200-177366600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:177366200-177366600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr5:177366200-177366600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:177366200-177366600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr5:177366200-177366600	Active TSS	Esophagus	oesophagus
36	chr5:177366200-177366600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
37	chr5:177366200-177366600	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr5:177366200-177366600	Enhancers	Spleen	Spleen
39	chr5:177366200-177366600	Active TSS	Hela-S3	cervix
40	chr5:177366200-177366800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr5:177366200-177366800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:177366200-177366800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr5:177366200-177366800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:177366200-177366800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr5:177366200-177366800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:177366200-177366800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:177366200-177366800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:177366200-177366800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:177366200-177366800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr5:177366200-177366800	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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