Variant report

Variant	rs11135430
Chromosome Location	chr5:95046983-95046984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr5:95046007-95047225	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:95046632-95047076	HCT-116	colon:	n/a	n/a
3	POLR2A	chr5:95046647-95048593	K562	blood:	n/a	n/a
4	NR2F2	chr5:95045954-95047153	K562	blood:	n/a	n/a
5	SIN3A	chr5:95046681-95047587	H1-hESC	embryonic stem cell:	n/a	n/a
6	IRF1	chr5:95045939-95047009	K562	blood:	n/a	n/a
7	YY1	chr5:95046845-95047017	HCT-116	colon:	n/a	n/a
8	ZC3H11A	chr5:95046848-95047003	K562	blood:	n/a	n/a
9	POLR2A	chr5:95046614-95047590	K562	blood:	n/a	n/a
10	RCOR1	chr5:95046735-95047006	K562	blood:	n/a	n/a
11	POLR2A	chr5:95045933-95048741	K562	blood:	n/a	n/a
12	TEAD4	chr5:95046592-95047133	K562	blood:	n/a	n/a
13	MYC	chr5:95046630-95048575	K562	blood:	n/a	n/a
14	TRIM28	chr5:95045942-95047076	K562	blood:	n/a	n/a
15	YY1	chr5:95046979-95047133	K562	blood:	n/a	n/a
16	TBP	chr5:95046645-95046997	K562	blood:	n/a	n/a
17	JUN	chr5:95045984-95047021	K562	blood:	n/a	n/a
18	MAFK	chr5:95046711-95047042	K562	blood:	n/a	n/a
19	STAT5A	chr5:95045964-95047074	K562	blood:	n/a	n/a
20	POLR2A	chr5:95046672-95048604	K562	blood:	n/a	n/a
21	TCF7L2	chr5:95045947-95047665	HCT-116	colon:	n/a	n/a
22	POLR2A	chr5:95046605-95047238	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr5:95046784-95046996	K562	blood:	n/a	n/a
24	TFAP2C	chr5:95046071-95047314	Hela-S3	cervix:	n/a	n/a
25	TFAP2A	chr5:95046633-95047270	Hela-S3	cervix:	n/a	n/a
26	TEAD4	chr5:95046798-95047086	H1-hESC	embryonic stem cell:	n/a	n/a
27	PML	chr5:95046607-95047104	K562	blood:	n/a	n/a
28	MAX	chr5:95046735-95047596	K562	blood:	n/a	n/a
29	PML	chr5:95046595-95047603	K562	blood:	n/a	n/a
30	NFYB	chr5:95046825-95047026	K562	blood:	n/a	n/a
31	GTF2F1	chr5:95046685-95047029	Hela-S3	cervix:	n/a	n/a
32	SP1	chr5:95046611-95047217	HCT-116	colon:	n/a	n/a
33	HEY1	chr5:95046570-95048531	K562	blood:	n/a	n/a
34	JUN	chr5:95046637-95046998	Hela-S3	cervix:	n/a	n/a
35	MAX	chr5:95046638-95047093	K562	blood:	n/a	n/a
36	TBL1XR1	chr5:95045935-95048697	K562	blood:	n/a	n/a
37	MAZ	chr5:95046653-95047732	K562	blood:	n/a	n/a
38	SPI1	chr5:95046832-95047057	K562	blood:	n/a	n/a
39	FOS	chr5:95046635-95047098	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr5:95046605-95047186	HCT-116	colon:	n/a	n/a
41	TAF1	chr5:95046585-95047175	K562	blood:	n/a	n/a
42	ZMIZ1	chr5:95046652-95048578	K562	blood:	n/a	n/a
43	UBTF	chr5:95046713-95047062	K562	blood:	n/a	n/a
44	CEBPB	chr5:95046802-95047143	K562	blood:	n/a	n/a
45	JUN	chr5:95046351-95047533	K562	blood:	n/a	n/a
46	BRCA1	chr5:95046823-95047023	Hela-S3	cervix:	n/a	n/a
47	TAL1	chr5:95046848-95047020	K562	blood:	n/a	n/a
48	CHD2	chr5:95046656-95047028	Hela-S3	cervix:	n/a	n/a
49	ATF1	chr5:95046053-95047077	K562	blood:	n/a	n/a
50	FOSL1	chr5:95046619-95047156	HCT-116	colon:	n/a	chr5:95046760-95046771

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:94997256..95000202-chr5:95046139..95048093,2	MCF-7	breast:
2	chr5:95032657..95035811-chr5:95043701..95049648,10	MCF-7	breast:
3	chr5:95040975..95044012-chr5:95044306..95047616,3	MCF-7	breast:
4	chr20:58386688..58388847-chr5:95046568..95048310,2	MCF-7	breast:
5	chr5:94981368..94988467-chr5:95046173..95051252,17	K562	blood:
6	chr5:95031841..95037563-chr5:95043452..95050597,14	MCF-7	breast:
7	chr5:95046797..95048565-chr5:95053368..95055074,3	MCF-7	breast:
8	chr5:95040226..95041921-chr5:95045124..95047420,2	MCF-7	breast:
9	chr5:94982379..94987076-chr5:95045372..95049493,6	K562	blood:
10	chr5:94982383..94984588-chr5:95046353..95049787,5	MCF-7	breast:
11	chr5:95045599..95047743-chr5:95114139..95116293,2	MCF-7	breast:
12	chr5:94982238..94984113-chr5:95046187..95048295,2	MCF-7	breast:
13	chr5:95044657..95047785-chr5:95094774..95097386,3	MCF-7	breast:

No data

Variant related genes	Relation type
RHOBTB3	TF binding region
ENSG00000145757	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000175449	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10059869	0.94[ASN][1000 genomes]
rs10069376	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10071010	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10074352	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11135431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12651757	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12651828	0.84[ASN][1000 genomes]
rs12658667	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13359077	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13359079	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13361247	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13361783	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1986960	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28531718	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28560274	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4130726	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60274696	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62366975	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62366976	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6870466	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6870499	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6870645	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6875206	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6889576	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7706605	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7710768	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7725013	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7729154	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3380725	chr5:95041824-95049026	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3353944	chr5:95043196-95048394	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95033200-95047000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:95039800-95048000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:95040600-95053400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:95042200-95051800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:95044400-95048400	Enhancers	Placenta	Placenta
6	chr5:95045600-95048200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:95045600-95048600	Enhancers	Fetal Intestine Small	intestine
8	chr5:95045800-95047000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:95045800-95047000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr5:95045800-95047200	Enhancers	Fetal Muscle Leg	muscle
11	chr5:95045800-95047200	Enhancers	Fetal Stomach	stomach
12	chr5:95045800-95047200	Enhancers	Psoas Muscle	Psoas
13	chr5:95045800-95047800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:95045800-95048200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr5:95045800-95048400	Enhancers	Left Ventricle	heart
16	chr5:95045800-95048800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:95045800-95048800	Enhancers	Fetal Intestine Large	intestine
18	chr5:95046000-95047000	Enhancers	Duodenum Mucosa	Duodenum
19	chr5:95046000-95047000	Enhancers	Fetal Lung	lung
20	chr5:95046000-95047000	Enhancers	HSMMtube	muscle
21	chr5:95046000-95047200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:95046000-95047200	Enhancers	Rectal Smooth Muscle	rectum
23	chr5:95046000-95047400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:95046000-95047600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr5:95046000-95047600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:95046000-95047600	Enhancers	Fetal Muscle Trunk	muscle
27	chr5:95046000-95047800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr5:95046000-95047800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr5:95046000-95048000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr5:95046000-95051800	Weak transcription	Pancreas	Pancrea
31	chr5:95046200-95047000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:95046200-95047000	Enhancers	Brain Hippocampus Middle	brain
33	chr5:95046200-95047000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr5:95046200-95047000	Enhancers	Stomach Mucosa	stomach
35	chr5:95046200-95047400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:95046200-95047400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr5:95046200-95047400	Weak transcription	A549	lung
38	chr5:95046200-95047400	Enhancers	NH-A	brain
39	chr5:95046200-95047600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr5:95046200-95047600	Active TSS	K562	blood
41	chr5:95046200-95047800	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr5:95046200-95047800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr5:95046200-95048000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:95046200-95048000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr5:95046200-95051600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:95046400-95047400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:95046400-95055600	Weak transcription	Small Intestine	intestine
48	chr5:95046600-95047000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:95046600-95047000	Flanking Active TSS	Ovary	ovary
50	chr5:95046600-95047000	Active TSS	Right Atrium	heart

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