Variant report

Variant	rs185311
Chromosome Location	chr5:95047506-95047507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:95046647-95048593	K562	blood:	n/a	n/a
2	SIN3A	chr5:95046681-95047587	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF1	chr5:95047327-95047534	K562	blood:	n/a	n/a
4	MAX	chr5:95047164-95047645	K562	blood:	n/a	n/a
5	POLR2A	chr5:95046614-95047590	K562	blood:	n/a	n/a
6	POLR2A	chr5:95045933-95048741	K562	blood:	n/a	n/a
7	MYC	chr5:95046630-95048575	K562	blood:	n/a	n/a
8	JUND	chr5:95047332-95047607	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr5:95047297-95047567	H1-hESC	embryonic stem cell:	n/a	n/a
10	CUX1	chr5:95047377-95047584	K562	blood:	n/a	n/a
11	UBTF	chr5:95047286-95047684	K562	blood:	n/a	n/a
12	SP1	chr5:95047273-95047713	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr5:95047198-95047647	K562	blood:	n/a	n/a
14	TRIM28	chr5:95047292-95048689	K562	blood:	n/a	n/a
15	POLR2A	chr5:95046672-95048604	K562	blood:	n/a	n/a
16	TCF7L2	chr5:95045947-95047665	HCT-116	colon:	n/a	n/a
17	KAP1	chr5:95047340-95047686	U2OS	brain:	n/a	n/a
18	CEBPB	chr5:95047504-95048583	K562	blood:	n/a	chr5:95048133-95048144
19	TBP	chr5:95047300-95047728	K562	blood:	n/a	n/a
20	TEAD4	chr5:95047341-95047678	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr5:95046735-95047596	K562	blood:	n/a	n/a
22	PML	chr5:95046595-95047603	K562	blood:	n/a	n/a
23	YY1	chr5:95047273-95047603	H1-hESC	embryonic stem cell:	n/a	n/a
24	HEY1	chr5:95046570-95048531	K562	blood:	n/a	n/a
25	YY1	chr5:95047211-95047766	K562	blood:	n/a	n/a
26	SP1	chr5:95047317-95047662	K562	blood:	n/a	n/a
27	TBL1XR1	chr5:95045935-95048697	K562	blood:	n/a	n/a
28	MAZ	chr5:95046653-95047732	K562	blood:	n/a	n/a
29	EGR1	chr5:95047233-95047590	H1-hESC	embryonic stem cell:	n/a	n/a
30	ZMIZ1	chr5:95046652-95048578	K562	blood:	n/a	n/a
31	JUN	chr5:95046351-95047533	K562	blood:	n/a	n/a
32	JUND	chr5:95047327-95047589	H1-hESC	embryonic stem cell:	n/a	n/a
33	BHLHE40	chr5:95047340-95047576	K562	blood:	n/a	n/a
34	HCFC1	chr5:95047266-95047659	K562	blood:	n/a	n/a
35	NR2F2	chr5:95045747-95049349	K562	blood:	n/a	n/a
36	POLR2A	chr5:95046638-95047728	K562	blood:	n/a	n/a
37	JUND	chr5:95045928-95048619	K562	blood:	n/a	n/a
38	SP1	chr5:95046738-95047720	H1-hESC	embryonic stem cell:	n/a	n/a
39	IRF1	chr5:95047288-95048763	K562	blood:	n/a	n/a
40	POLR2A	chr5:95046605-95047867	K562	blood:	n/a	n/a
41	JUN	chr5:95045663-95048779	K562	blood:	n/a	chr5:95048130-95048143
42	POLR2A	chr5:95046747-95047712	MCF-7	breast:	n/a	n/a
43	SP1	chr5:95047195-95047867	K562	blood:	n/a	n/a
44	ZNF143	chr5:95047293-95047566	H1-hESC	embryonic stem cell:	n/a	n/a
45	TBL1XR1	chr5:95047402-95047627	K562	blood:	n/a	n/a
46	POLR2A	chr5:95046683-95048589	K562	blood:	n/a	n/a
47	POLR2A	chr5:95046024-95048609	K562	blood:	n/a	n/a
48	CTCF	chr5:95047342-95048441	K562	blood:	n/a	n/a
49	HDAC2	chr5:95047294-95047529	K562	blood:	n/a	n/a
50	CTBP2	chr5:95046826-95047512	H1-hESC	embryonic stem cell:	n/a	n/a

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	chr5:94982379..94987076-chr5:95045372..95049493,6	K562	blood:
9	chr5:94982383..94984588-chr5:95046353..95049787,5	MCF-7	breast:
10	chr5:95045599..95047743-chr5:95114139..95116293,2	MCF-7	breast:
11	chr5:94982238..94984113-chr5:95046187..95048295,2	MCF-7	breast:
12	chr5:95044657..95047785-chr5:95094774..95097386,3	MCF-7	breast:
13	chr5:95047472..95051247-chr5:95051726..95054261,3	MCF-7	breast:

No data

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs150535	0.91[EUR][1000 genomes]
rs2432036	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2548129	0.93[EUR][1000 genomes]
rs2548130	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs466748	0.81[ASN][1000 genomes]
rs622266	0.83[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95039800-95048000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:95040600-95053400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:95042200-95051800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:95044400-95048400	Enhancers	Placenta	Placenta
5	chr5:95045600-95048200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:95045600-95048600	Enhancers	Fetal Intestine Small	intestine
7	chr5:95045800-95047800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:95045800-95048200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:95045800-95048400	Enhancers	Left Ventricle	heart
10	chr5:95045800-95048800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:95045800-95048800	Enhancers	Fetal Intestine Large	intestine
12	chr5:95046000-95047600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:95046000-95047600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:95046000-95047600	Enhancers	Fetal Muscle Trunk	muscle
15	chr5:95046000-95047800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr5:95046000-95047800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr5:95046000-95048000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr5:95046000-95051800	Weak transcription	Pancreas	Pancrea
19	chr5:95046200-95047600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr5:95046200-95047600	Active TSS	K562	blood
21	chr5:95046200-95047800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr5:95046200-95047800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr5:95046200-95048000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:95046200-95048000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr5:95046200-95051600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:95046400-95055600	Weak transcription	Small Intestine	intestine
27	chr5:95046600-95049200	Enhancers	HUVEC	blood vessel
28	chr5:95046800-95047600	Flanking Active TSS	Hela-S3	cervix
29	chr5:95046800-95048200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:95046800-95048200	Enhancers	Right Ventricle	heart
31	chr5:95047000-95047800	Weak transcription	HSMMtube	muscle
32	chr5:95047000-95048000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:95047000-95048000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:95047000-95048000	Weak transcription	HSMM	muscle
35	chr5:95047000-95048000	Weak transcription	Osteobl	bone
36	chr5:95047000-95048200	Enhancers	Ovary	ovary
37	chr5:95047000-95048400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:95047000-95048400	Enhancers	Right Atrium	heart
39	chr5:95047000-95048400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr5:95047000-95052600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr5:95047000-95054600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:95047200-95047600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:95047200-95047800	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr5:95047200-95048800	Enhancers	Fetal Heart	heart
45	chr5:95047200-95049800	Weak transcription	Adipose Nuclei	Adipose
46	chr5:95047200-95056800	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:95047200-95062400	Weak transcription	Psoas Muscle	Psoas
48	chr5:95047400-95047600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:95047400-95047800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:95047400-95047800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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