Variant report

Variant	rs2932779
Chromosome Location	chr5:68530703-68530704
allele	A/G
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	ZNF143	chr5:68530402-68531079	GM12878	blood:	n/a	n/a
2	CREB1	chr5:68530176-68531086	HepG2	liver:	n/a	n/a
3	MAZ	chr5:68530492-68531047	HepG2	liver:	n/a	chr5:68530601-68530620 chr5:68530606-68530615 chr5:68530606-68530615 chr5:68530606-68530615
4	HDAC2	chr5:68530284-68530808	K562	blood:	n/a	n/a
5	NR2F2	chr5:68530317-68530832	K562	blood:	n/a	n/a
6	YY1	chr5:68530181-68530864	SK-N-SH_RA	brain:	n/a	n/a
7	IRF1	chr5:68530340-68530999	K562	blood:	n/a	n/a
8	POLR2A	chr5:68530379-68531144	MCF-7	breast:	n/a	n/a
9	POLR2A	chr5:68530249-68531240	GM12892	blood:	n/a	n/a
10	POLR2A	chr5:68530410-68530928	HepG2	liver:	n/a	n/a
11	RUNX3	chr5:68530288-68531137	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:68530303-68531066	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr5:68530160-68531052	U87	brain:	n/a	n/a
14	RCOR1	chr5:68530268-68531075	K562	blood:	n/a	n/a
15	TAL1	chr5:68530311-68531202	K562	blood:	n/a	chr5:68530363-68530371
16	MYC	chr5:68530513-68531122	MCF-7	breast:	n/a	chr5:68530601-68530620 chr5:68530606-68530615 chr5:68530606-68530615 chr5:68530606-68530615
17	POLR2A	chr5:68530455-68531064	H1-hESC	embryonic stem cell:	n/a	n/a
18	IRF1	chr5:68530184-68530967	K562	blood:	n/a	n/a
19	SIN3A	chr5:68530182-68531064	GM12878	blood:	n/a	n/a
20	TCF12	chr5:68530191-68531146	A549	lung:	n/a	n/a
21	ATF3	chr5:68530304-68530836	GM12878	blood:	n/a	chr5:68530606-68530615 chr5:68530606-68530626
22	ZNF143	chr5:68530441-68530956	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr5:68530324-68531034	GM12892	blood:	n/a	n/a
24	POLR2A	chr5:68530249-68531161	K562	blood:	n/a	n/a
25	EGR1	chr5:68530426-68530811	K562	blood:	n/a	n/a
26	TBL1XR1	chr5:68530233-68530978	K562	blood:	n/a	n/a
27	GABPA	chr5:68530471-68530939	K562	blood:	n/a	n/a
28	TAF1	chr5:68530426-68530870	GM12878	blood:	n/a	n/a
29	CTCF	chr5:68530640-68530790	GM12866	blood:	n/a	n/a
30	TAF1	chr5:68530234-68531166	MCF-7	breast:	n/a	n/a
31	POLR2A	chr5:68530310-68530994	ECC-1	luminal epithelium:	n/a	n/a
32	EGR1	chr5:68530560-68530961	GM12878	blood:	n/a	chr5:68530915-68530925
33	RCOR1	chr5:68530410-68531142	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:68530254-68531161	GM12878	blood:	n/a	n/a
35	MXI1	chr5:68530181-68531178	H1-hESC	embryonic stem cell:	n/a	n/a
36	FOS	chr5:68530463-68530777	MCF10A-Er-Src	breast:	n/a	n/a
37	MAX	chr5:68530255-68531245	MCF-7	breast:	n/a	chr5:68530601-68530620 chr5:68530606-68530615 chr5:68530606-68530615 chr5:68530382-68530391 chr5:68530606-68530615
38	ELF1	chr5:68530260-68531039	MCF-7	breast:	n/a	chr5:68530663-68530674 chr5:68530703-68530716
39	YY1	chr5:68530252-68530810	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr5:68530356-68531177	GM19193	blood:	n/a	n/a
41	POLR2A	chr5:68530388-68531071	K562	blood:	n/a	n/a
42	ELF1	chr5:68530291-68530997	A549	lung:	n/a	chr5:68530663-68530674 chr5:68530703-68530716
43	SIN3AK20	chr5:68530127-68531006	SK-N-SH	brain:	n/a	n/a
44	POU2F2	chr5:68530358-68531007	GM12891	blood:	n/a	n/a
45	MYC	chr5:68530486-68530932	MCF-7	breast:	n/a	chr5:68530601-68530620 chr5:68530606-68530615 chr5:68530606-68530615 chr5:68530606-68530615
46	MAX	chr5:68530236-68531110	Hela-S3	cervix:	n/a	chr5:68530601-68530620 chr5:68530606-68530615 chr5:68530606-68530615 chr5:68530382-68530391 chr5:68530606-68530615
47	YY1	chr5:68530292-68530834	HepG2	liver:	n/a	n/a
48	MAZ	chr5:68530214-68531058	GM12878	blood:	n/a	chr5:68530601-68530620 chr5:68530606-68530615 chr5:68530606-68530615 chr5:68530382-68530391 chr5:68530606-68530615
49	GABPA	chr5:68530392-68530932	H1-hESC	embryonic stem cell:	n/a	n/a
50	SIN3AK20	chr5:68530257-68531012	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:68483901..68487830-chr5:68528757..68532922,9	K562	blood:
2	chr5:68512355..68516868-chr5:68528060..68533660,10	K562	blood:
3	chr5:68529171..68532388-chr5:68663415..68666737,3	K562	blood:
4	chr5:68512355..68517480-chr5:68528060..68532261,10	K562	blood:
5	chr5:68512209..68515422-chr5:68529314..68532677,7	MCF-7	breast:
6	chr5:68529081..68531056-chr5:68663452..68665244,2	MCF-7	breast:
7	chr5:68530475..68532147-chr5:89705204..89707833,2	MCF-7	breast:
8	chr5:68513108..68514098-chr5:68530550..68531226,2	Hela-S3	cervix:
9	chr5:68529975..68532202-chr5:68627120..68629377,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS36-2	chr5:68530688-68530868	NONHSAT101904

Variant related genes	Relation type
CDK7	TF binding region
ENSG00000085231	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000183323	Chromatin interaction
ENSG00000153140	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000255647	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10058852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1976102	0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2069429	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2130755	1.00[EUR][1000 genomes]
rs2930947	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2930950	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932792	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2972383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101719	0.99[ASN][1000 genomes]
rs6877441	0.99[ASN][1000 genomes]
rs7715704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7716060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7720249	0.88[ASN][1000 genomes]
rs7729799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7734181	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68529800-68532000	Active TSS	A549	lung
2	chr5:68529800-68533000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:68530000-68530800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr5:68530000-68531200	Active TSS	Primary T cells from cord blood	blood
5	chr5:68530000-68531200	Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr5:68530000-68531200	Active TSS	Monocytes-CD14+_RO01746	blood
7	chr5:68530000-68531400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:68530000-68531400	Active TSS	Fetal Brain Male	brain
9	chr5:68530000-68531400	Active TSS	Fetal Stomach	stomach
10	chr5:68530000-68531400	Active TSS	Right Ventricle	heart
11	chr5:68530000-68531400	Active TSS	Thymus	Thymus
12	chr5:68530000-68531600	Active TSS	Fetal Muscle Leg	muscle
13	chr5:68530000-68531600	Active TSS	Fetal Thymus	thymus
14	chr5:68530000-68531600	Active TSS	Rectal Smooth Muscle	rectum
15	chr5:68530000-68531800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr5:68530000-68531800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr5:68530000-68531800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:68530000-68531800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:68530000-68532200	Active TSS	Psoas Muscle	Psoas
20	chr5:68530000-68532400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:68530000-68532600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:68530200-68531000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:68530200-68531200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:68530200-68531200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:68530200-68531200	Active TSS	Esophagus	oesophagus
26	chr5:68530200-68531200	Active TSS	Gastric	stomach
27	chr5:68530200-68531200	Active TSS	Left Ventricle	heart
28	chr5:68530200-68531200	Active TSS	Lung	lung
29	chr5:68530200-68531200	Active TSS	Pancreas	Pancrea
30	chr5:68530200-68531200	Active TSS	Placenta Amnion	Placenta Amnion
31	chr5:68530200-68531200	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr5:68530200-68531200	Active TSS	Small Intestine	intestine
33	chr5:68530200-68531200	Active TSS	Spleen	Spleen
34	chr5:68530200-68531400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr5:68530200-68531400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:68530200-68531400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:68530200-68531400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr5:68530200-68531400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:68530200-68531400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:68530200-68531400	Active TSS	Muscle Satellite Cultured Cells	--
41	chr5:68530200-68531400	Active TSS	Aorta	Aorta
42	chr5:68530200-68531400	Active TSS	Brain Angular Gyrus	brain
43	chr5:68530200-68531400	Active TSS	Brain Anterior Caudate	brain
44	chr5:68530200-68531400	Active TSS	Brain Cingulate Gyrus	brain
45	chr5:68530200-68531400	Active TSS	Brain Hippocampus Middle	brain
46	chr5:68530200-68531400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr5:68530200-68531400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr5:68530200-68531400	Active TSS	Fetal Brain Female	brain
49	chr5:68530200-68531400	Active TSS	Fetal Lung	lung
50	chr5:68530200-68531400	Active TSS	HUVEC	blood vessel

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