Variant report

Variant	rs17505733
Chromosome Location	chr4:152096755-152096756
allele	C/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	chr4:152096720-152096770	GM12878	blood:	n/a
2	chr4:152096720-152096770	HRPEpiC	eye:	n/a
3	chr4:152096720-152096770	ECC-1	luminal epithelium:	n/a
4	chr4:152096720-152096770	PFSK-1	brain:	n/a
5	chr4:152096720-152096770	GM12891	blood:	n/a
6	chr4:152096720-152096770	ProgFib	skin:	n/a
7	chr4:152096720-152096770	GM06990	blood:	n/a
8	chr4:152096720-152096770	HCT-116	colon:	n/a
9	chr4:152096720-152096770	AG09309	skin:	n/a
10	chr4:152096720-152096770	HepG2	liver:	n/a
11	chr4:152096720-152096770	AoSMC	blood vessel:	n/a
12	chr4:152096720-152096770	HCPEpiC	choroid plexus:	n/a
13	chr4:152096720-152096770	GM19239	blood:	n/a
14	chr4:152096720-152096770	SK-N-SH_RA	brain:	n/a
15	chr4:152096720-152096770	Hepatocyte	liver:	n/a
16	chr4:152096720-152096770	MCF10A-Er-Src	breast:	n/a
17	chr4:152096720-152096770	HCM	heart:	n/a
18	chr4:152096720-152096770	RPTEC	kidney:	n/a
19	chr4:152096720-152096770	LNCaP	prostate:	n/a
20	chr4:152096720-152096770	HMEC	breast:	n/a
21	chr4:152096720-152096770	AG09319	gingival:	n/a
22	chr4:152096720-152096770	HRCEpiC	kidney:	n/a
23	chr4:152096720-152096770	H1-hESC	embryonic stem cell:	embryo
24	chr4:152096720-152096770	AG04450	lung:	fetal
25	chr4:152096720-152096770	SK-N-SH	brain:	n/a
26	chr4:152096720-152096770	NT2-D1	testis:	n/a
27	chr4:152096720-152096770	K562	blood:	n/a
28	chr4:152096720-152096770	HUVEC	blood vessel:	n/a
29	chr4:152096720-152096770	HAEpiC	amniotic membrane:	n/a
30	chr4:152096720-152096770	HNPCEpiC	eye:	n/a
31	chr4:152096720-152096770	BE2_C	brain:	n/a
32	chr4:152096720-152096770	SK-N-MC	brain:	n/a
33	chr4:152096720-152096770	AG10803	skin:	n/a
34	chr4:152096720-152096770	GM12892	blood:	n/a
35	chr4:152096720-152096770	CMK	blood:	n/a
36	chr4:152096720-152096770	HRE	kidney:	n/a
37	chr4:152096720-152096770	AG04449	skin:	fetal
38	chr4:152096720-152096770	T-47D	breast:	n/a
39	chr4:152096720-152096770	U87	brain:	n/a
40	chr4:152096720-152096770	Hela-S3	cervix:	n/a
41	chr4:152096720-152096770	PrEC	prostate:	n/a
42	chr4:152096720-152096770	HPAEpiC	pulmonary alveolar:	n/a
43	chr4:152096720-152096770	HL-60	blood:	n/a
44	chr4:152096720-152096770	HEEpiC	esophagus:	n/a
45	chr4:152096720-152096770	Jurkat	blood:	n/a
46	chr4:152096720-152096770	NHDF-neo	bronchial:	n/a
47	chr4:152096720-152096770	HEK293	kidney:	embryo
48	chr4:152096720-152096770	Caco-2	colon:	n/a
49	chr4:152096720-152096770	BJ	skin:	n/a
50	chr4:152096720-152096770	A549	lung:	n/a

No data

Variant related genes	Relation type
SH3D19	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6818900	1.00[YRI][hapmap]
rs7441379	1.00[CEU][hapmap];1.00[YRI][hapmap]

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	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS 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	35 gene(s)	inside rSNPs	diseases
5	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
7	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152055000-152105800	Weak transcription	Small Intestine	intestine
2	chr4:152088000-152101600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:152088200-152114600	Weak transcription	Psoas Muscle	Psoas
4	chr4:152089200-152097800	Strong transcription	Duodenum Mucosa	Duodenum
5	chr4:152089200-152098000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:152090400-152105800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:152090600-152097600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:152091200-152103800	Weak transcription	Fetal Brain Male	brain
9	chr4:152091200-152107000	Weak transcription	HSMMtube	muscle
10	chr4:152092000-152098400	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr4:152092200-152097200	Weak transcription	Fetal Kidney	kidney
12	chr4:152092600-152098000	Strong transcription	HUVEC	blood vessel
13	chr4:152092600-152098600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:152092800-152098400	Strong transcription	NH-A	brain
15	chr4:152093200-152098400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr4:152093400-152097800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:152093400-152097800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:152093400-152098200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:152093400-152098400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:152093400-152098600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr4:152093600-152096800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:152093600-152098400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:152093800-152097800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:152093800-152098000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:152093800-152098400	Strong transcription	Liver	Liver
26	chr4:152094000-152098400	Strong transcription	HepG2	liver
27	chr4:152094200-152097800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:152094200-152098200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:152094600-152096800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:152094600-152097000	Enhancers	Fetal Heart	heart
31	chr4:152094800-152096800	Genic enhancers	Fetal Stomach	stomach
32	chr4:152094800-152100600	Strong transcription	HSMM	muscle
33	chr4:152095000-152096800	Strong transcription	HMEC	breast
34	chr4:152095000-152098400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:152095200-152096800	Genic enhancers	Brain Hippocampus Middle	brain
36	chr4:152095200-152097000	Genic enhancers	Brain Cingulate Gyrus	brain
37	chr4:152095200-152097200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:152095200-152097200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:152095200-152097600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:152095200-152097600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:152095200-152097800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr4:152095200-152097800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:152095200-152097800	Genic enhancers	Fetal Lung	lung
44	chr4:152095400-152096800	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr4:152095400-152096800	Enhancers	Right Atrium	heart
46	chr4:152095400-152097200	Genic enhancers	Brain Anterior Caudate	brain
47	chr4:152095400-152097200	Genic enhancers	Ovary	ovary
48	chr4:152095400-152098000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:152095400-152098000	Genic enhancers	Brain Substantia Nigra	brain
50	chr4:152095400-152098400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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