Variant report

Variant	rs17079968
Chromosome Location	chr5:179443423-179443424
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:179443400-179443550	HBMEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179443379-179443429	HEEpiC	esophagus:	n/a
2	chr5:179443379-179443429	HRE	kidney:	n/a
3	chr5:179443379-179443429	T-47D	breast:	n/a
4	chr5:179443379-179443429	PrEC	prostate:	n/a
5	chr5:179443379-179443429	MCF10A-Er-Src	breast:	n/a
6	chr5:179443379-179443429	AG04450	lung:	fetal
7	chr5:179443379-179443429	ECC-1	luminal epithelium:	n/a
8	chr5:179443379-179443429	GM12891	blood:	n/a
9	chr5:179443379-179443429	Hepatocyte	liver:	n/a
10	chr5:179443379-179443429	GM12892	blood:	n/a
11	chr5:179443379-179443429	AoSMC	blood vessel:	n/a
12	chr5:179443379-179443429	ProgFib	skin:	n/a
13	chr5:179443379-179443429	NHBE	bronchial:	n/a
14	chr5:179443379-179443429	K562	blood:	n/a
15	chr5:179443379-179443429	ovcar-3	ovarian:	n/a
16	chr5:179443379-179443429	SK-N-SH_RA	brain:	n/a
17	chr5:179443379-179443429	BJ	skin:	n/a
18	chr5:179443379-179443429	HRCEpiC	kidney:	n/a
19	chr5:179443379-179443429	GM06990	blood:	n/a
20	chr5:179443379-179443429	NB4	blood:	n/a
21	chr5:179443379-179443429	SAEC	small airway:	n/a
22	chr5:179443379-179443429	GM19239	blood:	n/a
23	chr5:179443379-179443429	AG04449	skin:	fetal
24	chr5:179443379-179443429	HUVEC	blood vessel:	n/a
25	chr5:179443379-179443429	HIPEpiC	eye:	n/a
26	chr5:179443379-179443429	H1-hESC	embryonic stem cell:	embryo
27	chr5:179443379-179443429	HAEpiC	amniotic membrane:	n/a
28	chr5:179443379-179443429	U87	brain:	n/a
29	chr5:179443379-179443429	HEK293	kidney:	embryo
30	chr5:179443379-179443429	AG10803	skin:	n/a
31	chr5:179443379-179443429	HepG2	liver:	n/a
32	chr5:179443379-179443429	PFSK-1	brain:	n/a
33	chr5:179443379-179443429	Hela-S3	cervix:	n/a
34	chr5:179443379-179443429	NHDF-neo	bronchial:	n/a
35	chr5:179443379-179443429	HCPEpiC	choroid plexus:	n/a
36	chr5:179443379-179443429	HNPCEpiC	eye:	n/a
37	chr5:179443379-179443429	SK-N-SH	brain:	n/a
38	chr5:179443379-179443429	HCT-116	colon:	n/a
39	chr5:179443379-179443429	Caco-2	colon:	n/a
40	chr5:179443379-179443429	AG09309	skin:	n/a
41	chr5:179443379-179443429	HPAEpiC	pulmonary alveolar:	n/a
42	chr5:179443379-179443429	BE2_C	brain:	n/a
43	chr5:179443379-179443429	GM12878	blood:	n/a
44	chr5:179443379-179443429	RPTEC	kidney:	n/a
45	chr5:179443379-179443429	CMK	blood:	n/a
46	chr5:179443379-179443429	IMR90	lung:	fetal
47	chr5:179443379-179443429	NT2-D1	testis:	n/a
48	chr5:179443379-179443429	MCF-7	breast:	n/a
49	chr5:179443379-179443429	A549	lung:	n/a
50	chr5:179443379-179443429	HL-60	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179442610..179444709-chr5:179448350..179450019,2	K562	blood:
2	chr5:179437741..179439732-chr5:179442662..179444179,2	K562	blood:
3	chr5:179443209..179445457-chr5:179448507..179450019,2	K562	blood:

No data

Variant related genes	Relation type
MIR340	TF binding region
MIR340	CpG island

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1102191	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1103811	0.90[ASN][1000 genomes]
rs12519642	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12654148	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12656814	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13161895	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13166286	0.96[AFR][1000 genomes]
rs13179406	0.96[AFR][1000 genomes]
rs17079966	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs248318	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs248320	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs27012	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs27018	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34027780	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34603792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34674199	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35135297	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35592104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35608303	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35973843	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35988237	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3719	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs379655	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3797763	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3797764	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs394616	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4129403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4235504	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs438050	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4389651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs442181	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4700853	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs594202	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62405016	0.81[ASN][1000 genomes]
rs6873781	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6873994	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6876648	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71613436	0.96[AFR][1000 genomes]
rs71613437	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71613438	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs857187	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs857188	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs863231	0.88[ASN][1000 genomes]
rs864481	0.88[ASN][1000 genomes]
rs864482	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
2	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
5	nsv830561	chr5:179365637-179537012	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
6	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv1024592	chr5:179443133-179510642	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179396600-179461800	Weak transcription	HSMM	muscle
2	chr5:179405200-179453400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:179421800-179462400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:179426400-179447200	Weak transcription	A549	lung
5	chr5:179427000-179447400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:179427400-179447200	Weak transcription	Hela-S3	cervix
7	chr5:179428600-179447200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:179428600-179462200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:179429000-179447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:179429400-179447200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:179429400-179452800	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:179429600-179446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:179429600-179447000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:179429800-179445600	Weak transcription	Fetal Intestine Small	intestine
15	chr5:179429800-179446800	Weak transcription	Gastric	stomach
16	chr5:179429800-179447200	Weak transcription	Placenta	Placenta
17	chr5:179429800-179462400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:179429800-179463000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:179429800-179463200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:179429800-179482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:179430000-179453000	Weak transcription	NH-A	brain
22	chr5:179430600-179462400	Weak transcription	HepG2	liver
23	chr5:179434800-179443600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:179434800-179447000	Weak transcription	Fetal Kidney	kidney
25	chr5:179434800-179448200	Weak transcription	Fetal Heart	heart
26	chr5:179435000-179446400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:179435000-179447200	Weak transcription	Spleen	Spleen
28	chr5:179435200-179448800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:179435400-179447000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr5:179435400-179447200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:179435400-179453400	Weak transcription	Right Atrium	heart
32	chr5:179435800-179446800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:179435800-179454600	Weak transcription	K562	blood
34	chr5:179436200-179449200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:179436200-179450600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr5:179436600-179445200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:179436800-179447400	Weak transcription	Fetal Lung	lung
38	chr5:179437600-179462600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr5:179438000-179466400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:179439200-179452600	Weak transcription	HUVEC	blood vessel
41	chr5:179439400-179447000	Weak transcription	HSMMtube	muscle
42	chr5:179439400-179447200	Weak transcription	Right Ventricle	heart
43	chr5:179439600-179445600	Weak transcription	Lung	lung
44	chr5:179439600-179446800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:179439600-179447000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:179439600-179447000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:179439600-179447000	Weak transcription	Pancreas	Pancrea
48	chr5:179439600-179453400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:179439800-179446600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:179439800-179446800	Weak transcription	Brain Germinal Matrix	brain

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