Variant report

Variant	rs9763677
Chromosome Location	chr5:95064669-95064670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr5:95064259-95064693	GM12891	blood:	n/a	n/a
2	MAFK	chr5:95064294-95067121	K562	blood:	n/a	chr5:95065125-95065136 chr5:95066351-95066366 chr5:95065126-95065137 chr5:95065121-95065137 chr5:95065126-95065137
3	PAX5	chr5:95064274-95064904	GM12878	blood:	n/a	n/a
4	RCOR1	chr5:95064162-95065520	K562	blood:	n/a	n/a
5	BATF	chr5:95064435-95064713	GM12878	blood:	n/a	n/a
6	SRF	chr5:95064555-95064822	K562	blood:	n/a	n/a
7	POLR2A	chr5:95064270-95068101	K562	blood:	n/a	n/a
8	POLR2A	chr5:95064149-95064761	HUVEC	blood vessel:	n/a	n/a
9	TBP	chr5:95064512-95065503	GM12878	blood:	n/a	n/a
10	SP1	chr5:95064161-95064686	H1-hESC	embryonic stem cell:	n/a	n/a
11	TRIM28	chr5:95064117-95067230	K562	blood:	n/a	n/a
12	POLR2A	chr5:95064368-95068040	K562	blood:	n/a	n/a
13	GTF2B	chr5:95064526-95064975	K562	blood:	n/a	n/a
14	GATA2	chr5:95064258-95064707	HUVEC	blood vessel:	n/a	n/a
15	STAT5A	chr5:95064396-95065633	K562	blood:	n/a	chr5:95065150-95065161
16	MAX	chr5:95064327-95064721	K562	blood:	n/a	n/a
17	PML	chr5:95064139-95067292	K562	blood:	n/a	n/a
18	SRF	chr5:95064591-95064747	GM12878	blood:	n/a	n/a
19	YY1	chr5:95064269-95064688	K562	blood:	n/a	n/a
20	SRF	chr5:95064580-95064752	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:95064406-95068182	K562	blood:	n/a	n/a
22	BHLHE40	chr5:95064171-95065672	K562	blood:	n/a	n/a
23	HEY1	chr5:95064359-95068178	K562	blood:	n/a	chr5:95066946-95066955 chr5:95067312-95067327 chr5:95067117-95067132
24	NR2F2	chr5:95063263-95064768	MCF-7	breast:	n/a	n/a
25	NR2F2	chr5:95064183-95065626	K562	blood:	n/a	n/a
26	EP300	chr5:95064219-95064786	GM12878	blood:	n/a	n/a
27	TEAD4	chr5:95064177-95064767	H1-hESC	embryonic stem cell:	n/a	n/a
28	EP300	chr5:95064527-95064821	K562	blood:	n/a	n/a
29	BCL11A	chr5:95064328-95064739	GM12878	blood:	n/a	n/a
30	IRF1	chr5:95064279-95066991	K562	blood:	n/a	chr5:95065147-95065161 chr5:95065150-95065162 chr5:95065143-95065163 chr5:95065150-95065163 chr5:95065148-95065162 chr5:95066720-95066734 chr5:95065151-95065165 chr5:95065150-95065163 chr5:95065151-95065161 chr5:95065150-95065161 chr5:95065145-95065162
31	ESR1	chr5:95064213-95064714	ECC-1	luminal epithelium:	n/a	chr5:95064499-95064514 chr5:95064572-95064587
32	POU2F2	chr5:95064277-95064991	GM12878	blood:	n/a	n/a
33	IRF1	chr5:95063955-95067189	K562	blood:	n/a	chr5:95065147-95065161 chr5:95065150-95065162 chr5:95065143-95065163 chr5:95065150-95065163 chr5:95065148-95065162 chr5:95066720-95066734 chr5:95065151-95065165 chr5:95065150-95065163 chr5:95065151-95065161 chr5:95065150-95065161 chr5:95065145-95065162
34	CEBPD	chr5:95064237-95067211	K562	blood:	n/a	n/a
35	MAFF	chr5:95064334-95065366	K562	blood:	n/a	n/a
36	POLR2A	chr5:95064384-95068196	K562	blood:	n/a	n/a
37	EP300	chr5:95064473-95065547	GM12878	blood:	n/a	chr5:95065082-95065096
38	POLR2A	chr5:95064108-95068254	K562	blood:	n/a	n/a
39	POLR2A	chr5:95064332-95068208	GM12878	blood:	n/a	n/a
40	CEBPD	chr5:95064156-95065590	K562	blood:	n/a	n/a
41	BCL11A	chr5:95064386-95064809	GM12878	blood:	n/a	n/a
42	BCLAF1	chr5:95064437-95067812	K562	blood:	n/a	chr5:95067031-95067044 chr5:95066973-95066982 chr5:95067069-95067078
43	ZMIZ1	chr5:95064288-95067661	K562	blood:	n/a	n/a
44	STAT1	chr5:95064369-95065148	K562	blood:	n/a	chr5:95064729-95064740 chr5:95064749-95064760
45	POLR2A	chr5:95064504-95068239	K562	blood:	n/a	n/a
46	SIX5	chr5:95064532-95064817	K562	blood:	n/a	n/a
47	SRF	chr5:95064557-95064741	GM12878	blood:	n/a	n/a
48	SIN3AK20	chr5:95063252-95064723	MCF-7	breast:	n/a	n/a
49	TEAD4	chr5:95064120-95065854	K562	blood:	n/a	n/a
50	POLR2A	chr5:95063959-95065573	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:95008237..95008942-chr5:95064022..95064673,4	MCF-7	breast:
2	chr5:95033685..95034786-chr5:95064258..95065036,3	MCF-7	breast:
3	chr5:94979432..94984462-chr5:95062276..95069972,15	MCF-7	breast:
4	chr5:95007830..95008774-chr5:95064191..95064691,2	MCF-7	breast:
5	chr5:95063835..95065370-chr5:95095074..95096847,2	MCF-7	breast:
6	chr5:95007940..95008942-chr5:95064022..95064883,7	MCF-7	breast:
7	chr5:95063666..95065862-chr9:123987903..123990812,2	K562	blood:
8	chr5:95030766..95038024-chr5:95063760..95069646,19	MCF-7	breast:
9	chr5:94999099..95001904-chr5:95063544..95066090,3	MCF-7	breast:
10	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
11	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
12	chr5:95063187..95065170-chr5:95158016..95160708,2	K562	blood:
13	chr5:95061804..95065801-chr5:95176790..95180360,3	MCF-7	breast:

Variant related genes	Relation type
RHOBTB3	TF binding region
ENSG00000175449	Chromatin interaction
ENSG00000173221	Chromatin interaction
ENSG00000145757	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57120385	0.94[AFR][1000 genomes]
rs57266987	0.88[AFR][1000 genomes]
rs58614562	0.88[AFR][1000 genomes]
rs6876866	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7719748	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95048400-95066600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:95048400-95066600	Weak transcription	Left Ventricle	heart
3	chr5:95054400-95066200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:95054800-95065800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:95057200-95065800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:95058000-95065400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:95058000-95065800	Weak transcription	Brain Substantia Nigra	brain
8	chr5:95059000-95066000	Enhancers	Fetal Lung	lung
9	chr5:95059600-95065000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:95061000-95065800	Enhancers	Primary T cells from cord blood	blood
11	chr5:95061400-95066000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:95061800-95065000	Enhancers	Fetal Muscle Leg	muscle
13	chr5:95062200-95064800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:95062200-95065200	Enhancers	Fetal Thymus	thymus
15	chr5:95062200-95066000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:95062400-95064800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:95062400-95065000	Enhancers	Placenta	Placenta
18	chr5:95062400-95065800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:95062400-95066000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:95062400-95066000	Enhancers	Duodenum Mucosa	Duodenum
21	chr5:95062400-95066000	Enhancers	Fetal Intestine Small	intestine
22	chr5:95062400-95066000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:95062400-95066400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr5:95062600-95065400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:95062600-95065400	Weak transcription	Brain Anterior Caudate	brain
26	chr5:95062600-95065400	Enhancers	NHDF-Ad	bronchial
27	chr5:95062600-95066000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr5:95062600-95066400	Weak transcription	Psoas Muscle	Psoas
29	chr5:95062800-95064800	Enhancers	Fetal Intestine Large	intestine
30	chr5:95062800-95064800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr5:95062800-95065400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:95062800-95065400	Enhancers	Osteobl	bone
33	chr5:95062800-95065800	Weak transcription	Colon Smooth Muscle	Colon
34	chr5:95062800-95066000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:95062800-95066000	Enhancers	NHLF	lung
36	chr5:95063000-95064800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:95063000-95065600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:95063000-95065800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:95063000-95065800	Enhancers	Fetal Heart	heart
40	chr5:95063000-95065800	Enhancers	NH-A	brain
41	chr5:95063000-95066000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:95063000-95066000	Enhancers	HUVEC	blood vessel
43	chr5:95063200-95064800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:95063200-95064800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:95063200-95064800	Enhancers	HepG2	liver
46	chr5:95063200-95065000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr5:95063200-95065200	Weak transcription	HSMMtube	muscle
48	chr5:95063400-95065200	Enhancers	NHEK	skin
49	chr5:95063400-95066400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr5:95063600-95064800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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