Variant report

Variant	rs551950590
Chromosome Location	chr4:175302176-175302177
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:175302153-175302203	AG10803	skin:	n/a
2	chr4:175302153-175302203	GM12891	blood:	n/a
3	chr4:175302153-175302203	GM12878	blood:	n/a
4	chr4:175302153-175302203	NH-A	brain:	n/a
5	chr4:175302153-175302203	RPTEC	kidney:	n/a
6	chr4:175302153-175302203	MCF-7	breast:	n/a
7	chr4:175302153-175302203	HAEpiC	amniotic membrane:	n/a
8	chr4:175302153-175302203	AG04449	skin:	fetal
9	chr4:175302153-175302203	ovcar-3	ovarian:	n/a
10	chr4:175302153-175302203	CMK	blood:	n/a
11	chr4:175302153-175302203	HL-60	blood:	n/a
12	chr4:175302153-175302203	Hepatocyte	liver:	n/a
13	chr4:175302153-175302203	U87	brain:	n/a
14	chr4:175302153-175302203	HMEC	breast:	n/a
15	chr4:175302153-175302203	HCF	heart:	n/a
16	chr4:175302153-175302203	HepG2	liver:	n/a
17	chr4:175302153-175302203	BJ	skin:	n/a
18	chr4:175302153-175302203	PANC-1	pancreas:	n/a
19	chr4:175302153-175302203	HUVEC	blood vessel:	n/a
20	chr4:175302153-175302203	Caco-2	colon:	n/a
21	chr4:175302153-175302203	BE2_C	brain:	n/a
22	chr4:175302153-175302203	HCM	heart:	n/a
23	chr4:175302153-175302203	ProgFib	skin:	n/a
24	chr4:175302153-175302203	IMR90	lung:	fetal
25	chr4:175302153-175302203	PrEC	prostate:	n/a
26	chr4:175302153-175302203	AG09319	gingival:	n/a
27	chr4:175302153-175302203	HEK293	kidney:	embryo
28	chr4:175302153-175302203	Hela-S3	cervix:	n/a
29	chr4:175302153-175302203	H1-hESC	embryonic stem cell:	embryo
30	chr4:175302153-175302203	PFSK-1	brain:	n/a
31	chr4:175302153-175302203	HEEpiC	esophagus:	n/a
32	chr4:175302153-175302203	SAEC	small airway:	n/a
33	chr4:175302153-175302203	GM19239	blood:	n/a
34	chr4:175302153-175302203	SK-N-MC	brain:	n/a
35	chr4:175302153-175302203	AG09309	skin:	n/a
36	chr4:175302153-175302203	MCF10A-Er-Src	breast:	n/a
37	chr4:175302153-175302203	A549	lung:	n/a
38	chr4:175302153-175302203	SK-N-SH_RA	brain:	n/a
39	chr4:175302153-175302203	HRE	kidney:	n/a
40	chr4:175302153-175302203	GM12892	blood:	n/a
41	chr4:175302153-175302203	HRCEpiC	kidney:	n/a
42	chr4:175302153-175302203	HCPEpiC	choroid plexus:	n/a
43	chr4:175302153-175302203	HNPCEpiC	eye:	n/a
44	chr4:175302153-175302203	AG04450	lung:	fetal
45	chr4:175302153-175302203	HPAEpiC	pulmonary alveolar:	n/a
46	chr4:175302153-175302203	HCT-116	colon:	n/a
47	chr4:175302153-175302203	GM06990	blood:	n/a
48	chr4:175302153-175302203	HRPEpiC	eye:	n/a
49	chr4:175302153-175302203	Jurkat	blood:	n/a
50	chr4:175302153-175302203	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
ENSG00000249875	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	esv3356953	chr4:175301838-175304939	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175297000-175304400	Weak transcription	K562	blood
2	chr4:175297400-175304800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:175299000-175302600	Weak transcription	Stomach Mucosa	stomach
4	chr4:175299000-175303200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:175300400-175303200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:175300400-175303400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:175300600-175302800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:175300600-175303600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:175300600-175305000	Weak transcription	A549	lung
10	chr4:175300800-175302800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:175301200-175305000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:175301400-175302200	Enhancers	Placenta	Placenta
13	chr4:175301400-175303600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:175301600-175303000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:175301800-175302200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:175301800-175302200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:175301800-175303400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:175301800-175303600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:175301800-175310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:175302000-175302200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:175302000-175302200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:175302000-175303000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:175302000-175303200	Enhancers	H9 Cell Line	embryonic stem cell

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