Variant report

Variant	rs149296711
Chromosome Location	chr5:179755892-179755893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:243)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:243 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr5:179755616-179756050	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr5:179755800-179755950	AG04450	lung:	n/a	n/a
3	POLR2A	chr5:179755430-179756075	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr5:179755712-179755953	ECC-1	luminal epithelium:	n/a	n/a
5	ATF2	chr5:179755640-179756058	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr5:179755514-179756160	HCT-116	colon:	n/a	chr5:179755964-179755974 chr5:179755957-179755967 chr5:179755955-179755967
7	CTCF	chr5:179755702-179756001	NHEK	skin:	n/a	n/a
8	E2F6	chr5:179755731-179755909	K562	blood:	n/a	n/a
9	CTCF	chr5:179755668-179755991	Medullo	brain:	n/a	n/a
10	CTCF	chr5:179755800-179755950	GM12867	blood:	n/a	n/a
11	ELF1	chr5:179755607-179755979	A549	lung:	n/a	chr5:179755815-179755828
12	CTCF	chr5:179755760-179755910	GM12871	blood:	n/a	n/a
13	ZNF143	chr5:179755655-179756040	GM12878	blood:	n/a	n/a
14	CTCF	chr5:179755780-179755930	BE2_C	brain:	n/a	n/a
15	CTCF	chr5:179755780-179755930	GM12801	blood:	n/a	n/a
16	CTCF	chr5:179755711-179755985	MCF-7	breast:	n/a	n/a
17	CTCF	chr5:179755760-179755910	HCM	heart:	n/a	n/a
18	CTCF	chr5:179755667-179755994	GM19239	blood:	n/a	n/a
19	CTCF	chr5:179755616-179756022	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr5:179755780-179755930	HCM	heart:	n/a	n/a
21	CTCF	chr5:179755700-179755980	LNCaP	prostate:	n/a	n/a
22	CBX3	chr5:179755539-179755989	K562	blood:	n/a	n/a
23	CTCF	chr5:179755703-179756002	K562	blood:	n/a	n/a
24	CTCF	chr5:179755760-179755910	HUVEC	blood vessel:	n/a	n/a
25	ELF1	chr5:179755631-179756041	K562	blood:	n/a	chr5:179755815-179755828
26	YY1	chr5:179755720-179756021	GM12892	blood:	n/a	n/a
27	CTCF	chr5:179755760-179755910	HRE	kidney:	n/a	n/a
28	CTCF	chr5:179755695-179755991	GM12891	blood:	n/a	n/a
29	RAD21	chr5:179755661-179756047	SK-N-SH_RA	brain:	n/a	chr5:179755964-179755974 chr5:179755957-179755967 chr5:179755955-179755967
30	MYC	chr5:179755704-179755994	MCF10A-Er-Src	breast:	n/a	n/a
31	CTCF	chr5:179755214-179756253	A549	lung:	n/a	chr5:179756200-179756213 chr5:179756204-179756213
32	CTCF	chr5:179755800-179755950	HEEpiC	esophagus:	n/a	n/a
33	RAD21	chr5:179755696-179755903	GM12878	blood:	n/a	n/a
34	CTCF	chr5:179755780-179755930	MCF-7	breast:	n/a	n/a
35	SMC3	chr5:179755561-179756266	SK-N-SH	brain:	n/a	n/a
36	CTCF	chr5:179755780-179755930	GM12867	blood:	n/a	n/a
37	CTCF	chr5:179755780-179755930	NHLF	lung:	n/a	n/a
38	CTCF	chr5:179755780-179755930	HRPEpiC	eye:	n/a	n/a
39	ZKSCAN1	chr5:179755630-179756035	Hela-S3	cervix:	n/a	n/a
40	E2F4	chr5:179755667-179755985	MCF10A-Er-Src	breast:	n/a	n/a
41	CTCF	chr5:179755669-179756034	A549	lung:	n/a	n/a
42	CTCF	chr5:179755760-179755910	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr5:179755800-179755950	HUVEC	blood vessel:	n/a	n/a
44	BHLHE40	chr5:179755711-179755966	K562	blood:	n/a	n/a
45	CTCF	chr5:179755780-179755930	HEK293	kidney:	n/a	n/a
46	CTCF	chr5:179755702-179755950	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr5:179755675-179756005	GM19240	blood:	n/a	n/a
48	CTCF	chr5:179755780-179755930	AG09309	skin:	n/a	n/a
49	CTCF	chr5:179755658-179756001	HepG2	liver:	n/a	n/a
50	RAD21	chr5:179755627-179756018	H1-hESC	embryonic stem cell:	n/a	chr5:179755964-179755974 chr5:179755957-179755967 chr5:179755955-179755967

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179739780..179742416-chr5:179755432..179756942,2	MCF-7	breast:
2	chr5:179755365..179757615-chr5:179761406..179763311,3	K562	blood:
3	chr5:179719106..179721039-chr5:179754091..179757820,3	MCF-7	breast:
4	chr5:179719776..179721079-chr5:179755388..179756357,4	MCF-7	breast:
5	chr5:179753387..179757614-chr5:179776973..179781058,5	MCF-7	breast:
6	chr5:179752563..179754088-chr5:179754350..179755919,2	K562	blood:
7	chr5:179743201..179745094-chr5:179754638..179756187,2	MCF-7	breast:
8	chr5:179628027..179629201-chr5:179755361..179756060,4	K562	blood:
9	chr5:179723581..179725108-chr5:179754464..179757151,2	MCF-7	breast:
10	chr5:179720249..179721437-chr5:179755481..179756336,5	K562	blood:
11	chr5:179741922..179743146-chr5:179755337..179756583,4	MCF-7	breast:
12	chr5:179720189..179721270-chr5:179755375..179756476,9	MCF-7	breast:
13	chr5:179749469..179751688-chr5:179754397..179756302,3	MCF-7	breast:

No data

Variant related genes	Relation type
GFPT2	TF binding region
ENSG00000248367	Chromatin interaction
ENSG00000131459	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
6	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv830563	chr5:179717693-179898609	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
10	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
11	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
12	nsv883291	chr5:179755559-179818868	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179720600-179756800	Weak transcription	NHDF-Ad	bronchial
2	chr5:179720600-179758400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:179727200-179757400	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr5:179727200-179757400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:179727400-179757600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:179727600-179757600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:179728600-179761400	Weak transcription	Aorta	Aorta
8	chr5:179738000-179758000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:179739600-179761200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:179740400-179757400	Weak transcription	NHLF	lung
11	chr5:179740600-179757600	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr5:179741600-179756000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:179741600-179757600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:179741600-179762600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:179741800-179758200	Weak transcription	Fetal Intestine Small	intestine
16	chr5:179742000-179757400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:179742600-179757800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:179743200-179761000	Weak transcription	Right Ventricle	heart
19	chr5:179743400-179758200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:179743800-179756400	Weak transcription	Colonic Mucosa	Colon
21	chr5:179743800-179757400	Weak transcription	Fetal Lung	lung
22	chr5:179744000-179766600	Weak transcription	Gastric	stomach
23	chr5:179746000-179760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:179746000-179761400	Weak transcription	Right Atrium	heart
25	chr5:179749200-179757400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:179750200-179756600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:179750200-179757400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:179751600-179756200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:179751800-179757400	Weak transcription	HSMMtube	muscle
30	chr5:179752000-179756000	Strong transcription	Osteobl	bone
31	chr5:179752200-179756200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:179752200-179756400	Strong transcription	NH-A	brain
33	chr5:179752200-179759000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:179752400-179756800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:179752400-179757400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:179752400-179758800	Weak transcription	Left Ventricle	heart
37	chr5:179752400-179760800	Weak transcription	Brain Germinal Matrix	brain
38	chr5:179752400-179760800	Weak transcription	Brain Substantia Nigra	brain
39	chr5:179752600-179758800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:179753200-179756800	Weak transcription	Esophagus	oesophagus
41	chr5:179754000-179758200	Strong transcription	Fetal Stomach	stomach
42	chr5:179754000-179758800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:179754200-179756200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:179754200-179758800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr5:179754400-179756000	Strong transcription	Ovary	ovary
46	chr5:179754400-179756200	Strong transcription	Brain Hippocampus Middle	brain
47	chr5:179754400-179756600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr5:179754400-179758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:179754400-179758800	Strong transcription	Fetal Muscle Leg	muscle
50	chr5:179754600-179756800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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