Variant report

Variant	rs147913231
Chromosome Location	chr4:8239268-8239269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:8239258-8239430	HepG2	liver:	n/a	n/a
2	JUND	chr4:8239262-8239462	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:8236474-8239417	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:8238891-8239360	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr4:8239247-8239354	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8239220-8239270	AG09309	skin:	n/a
2	chr4:8239254-8239304	HNPCEpiC	eye:	n/a
3	chr4:8239220-8239270	PrEC	prostate:	n/a
4	chr4:8239220-8239270	HCF	heart:	n/a
5	chr4:8239220-8239270	SK-N-MC	brain:	n/a
6	chr4:8239254-8239304	GM12891	blood:	n/a
7	chr4:8239220-8239270	Hepatocyte	liver:	n/a
8	chr4:8239220-8239270	HEEpiC	esophagus:	n/a
9	chr4:8239220-8239270	HL-60	blood:	n/a
10	chr4:8239220-8239270	K562	blood:	n/a
11	chr4:8239254-8239304	AG10803	skin:	n/a
12	chr4:8239220-8239270	CMK	blood:	n/a
13	chr4:8239220-8239270	Hela-S3	cervix:	n/a
14	chr4:8239254-8239304	PrEC	prostate:	n/a
15	chr4:8239220-8239270	GM12878	blood:	n/a
16	chr4:8239220-8239270	HRCEpiC	kidney:	n/a
17	chr4:8239220-8239270	HepG2	liver:	n/a
18	chr4:8239254-8239304	GM12892	blood:	n/a
19	chr4:8239220-8239270	HEK293	kidney:	embryo
20	chr4:8239254-8239304	U87	brain:	n/a
21	chr4:8239254-8239304	BJ	skin:	n/a
22	chr4:8239220-8239270	SK-N-SH_RA	brain:	n/a
23	chr4:8239220-8239270	PANC-1	pancreas:	n/a
24	chr4:8239254-8239304	HRCEpiC	kidney:	n/a
25	chr4:8239254-8239304	HRE	kidney:	n/a
26	chr4:8239254-8239304	SK-N-MC	brain:	n/a
27	chr4:8239254-8239304	HIPEpiC	eye:	n/a
28	chr4:8239254-8239304	H1-hESC	embryonic stem cell:	embryo
29	chr4:8239254-8239304	ProgFib	skin:	n/a
30	chr4:8239254-8239304	ovcar-3	ovarian:	n/a
31	chr4:8239254-8239304	A549	lung:	n/a
32	chr4:8239220-8239270	LNCaP	prostate:	n/a
33	chr4:8239220-8239270	H1-hESC	embryonic stem cell:	embryo
34	chr4:8239254-8239304	NH-A	brain:	n/a
35	chr4:8239220-8239270	SAEC	small airway:	n/a
36	chr4:8239254-8239304	HAEpiC	amniotic membrane:	n/a
37	chr4:8239254-8239304	GM12878	blood:	n/a
38	chr4:8239254-8239304	NT2-D1	testis:	n/a
39	chr4:8239220-8239270	RPTEC	kidney:	n/a
40	chr4:8239254-8239304	Hepatocyte	liver:	n/a
41	chr4:8239254-8239304	BE2_C	brain:	n/a
42	chr4:8239220-8239270	NHBE	bronchial:	n/a
43	chr4:8239220-8239270	GM12891	blood:	n/a
44	chr4:8239220-8239270	HCT-116	colon:	n/a
45	chr4:8239254-8239304	CMK	blood:	n/a
46	chr4:8239254-8239304	T-47D	breast:	n/a
47	chr4:8239254-8239304	ECC-1	luminal epithelium:	n/a
48	chr4:8239254-8239304	HCF	heart:	n/a
49	chr4:8239220-8239270	HMEC	breast:	n/a
50	chr4:8239220-8239270	Caco-2	colon:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8195725..8198126-chr4:8238876..8240631,2	MCF-7	breast:
2	chr4:8201531..8203736-chr4:8237028..8240221,3	MCF-7	breast:
3	chr4:8238966..8241301-chr4:8261569..8263591,2	MCF-7	breast:
4	chr4:8183544..8186316-chr4:8238695..8241218,2	MCF-7	breast:

No data

Variant related genes	Relation type
SH3TC1	TF binding region
SH3TC1	CpG island
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv878598	chr4:8195705-8254784	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv2763338	chr4:8199091-8260812	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv878600	chr4:8209447-8312158	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
15	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
18	esv3438872	chr4:8237102-8239900	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3440985	chr4:8238952-8243350	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8228400-8240400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:8228400-8240800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:8228400-8243800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:8228800-8244200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:8230600-8239400	Strong transcription	Fetal Intestine Small	intestine
6	chr4:8230600-8243800	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:8230800-8240400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:8230800-8242800	Weak transcription	NHLF	lung
9	chr4:8230800-8244200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:8230800-8244200	Weak transcription	Left Ventricle	heart
11	chr4:8230800-8244200	Weak transcription	Right Atrium	heart
12	chr4:8231000-8239600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:8231000-8241000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr4:8231000-8243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:8231000-8243800	Weak transcription	Brain Angular Gyrus	brain
16	chr4:8231200-8239800	Weak transcription	A549	lung
17	chr4:8232000-8243600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:8232200-8244200	Strong transcription	HUVEC	blood vessel
19	chr4:8232400-8241400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr4:8232600-8240000	Strong transcription	Placenta	Placenta
21	chr4:8232800-8239400	Strong transcription	Fetal Intestine Large	intestine
22	chr4:8232800-8241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:8232800-8242000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:8232800-8243800	Strong transcription	Lung	lung
25	chr4:8232800-8244200	Strong transcription	HMEC	breast
26	chr4:8233000-8240200	Strong transcription	Gastric	stomach
27	chr4:8233000-8243400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:8233000-8243800	Strong transcription	Liver	Liver
29	chr4:8233000-8244000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:8233200-8243800	Strong transcription	Fetal Stomach	stomach
31	chr4:8233800-8239400	Strong transcription	Spleen	Spleen
32	chr4:8234000-8239400	Strong transcription	Esophagus	oesophagus
33	chr4:8234000-8241800	Strong transcription	Adipose Nuclei	Adipose
34	chr4:8234000-8243200	Strong transcription	Pancreas	Pancrea
35	chr4:8234200-8239600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:8234200-8240400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr4:8234200-8241600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:8234200-8243800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:8234400-8239400	Weak transcription	Fetal Brain Male	brain
40	chr4:8234400-8243400	Strong transcription	Right Ventricle	heart
41	chr4:8234600-8243600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:8234800-8239400	Strong transcription	Primary B cells from cord blood	blood
43	chr4:8234800-8241200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:8234800-8241800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:8235800-8243600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:8236000-8244200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:8236200-8239400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:8236200-8240200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:8236200-8243600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:8236200-8243800	Weak transcription	Brain Hippocampus Middle	brain

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