Variant report

Variant	rs17720107
Chromosome Location	chr5:147764360-147764361
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:147762988-147766064	HepG2	liver:	n/a	n/a
2	GABPA	chr5:147762825-147764409	MCF-7	breast:	n/a	n/a
3	POLR2A	chr5:147764306-147764380	K562	blood:	n/a	n/a
4	POLR2A	chr5:147764075-147764732	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr5:147762869-147765300	IMR90	lung:	n/a	n/a
6	POLR2A	chr5:147763090-147764424	K562	blood:	n/a	n/a
7	POLR2A	chr5:147763057-147764418	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr5:147763064-147764748	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr5:147762832-147764544	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:147762920-147764487	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr5:147763079-147764421	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr5:147763016-147764499	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:147762997-147764590	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:147762963-147764676	HepG2	liver:	n/a	n/a
15	MXI1	chr5:147762890-147764803	IMR90	lung:	n/a	n/a
16	POLR2A	chr5:147763134-147766648	K562	blood:	n/a	n/a
17	POLR2A	chr5:147763004-147764394	GM12891	blood:	n/a	n/a
18	POLR2A	chr5:147763051-147764364	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr5:147762108-147766732	MCF10A-Er-Src	breast:	n/a	n/a
20	NRF1	chr5:147764037-147764376	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr5:147762560-147765195	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:147762182-147766645	MCF10A-Er-Src	breast:	n/a	n/a
23	TCF7L2	chr5:147763969-147764396	PANC-1	pancreas:	n/a	chr5:147764172-147764188 chr5:147764176-147764186 chr5:147764173-147764187 chr5:147764176-147764185 chr5:147764175-147764184 chr5:147764172-147764188
24	POLR2A	chr5:147764244-147764510	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr5:147762970-147764360	GM12892	blood:	n/a	n/a
26	POLR2A	chr5:147763168-147764462	HepG2	liver:	n/a	n/a
27	POLR2A	chr5:147763046-147764470	K562	blood:	n/a	n/a
28	POLR2A	chr5:147762474-147764496	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr5:147762503-147764584	GM12891	blood:	n/a	n/a
30	POLR2A	chr5:147763125-147764410	GM12892	blood:	n/a	n/a
31	MXI1	chr5:147762302-147764575	SK-N-SH	brain:	n/a	n/a
32	HEY1	chr5:147763145-147764494	K562	blood:	n/a	n/a
33	POLR2A	chr5:147762969-147764494	GM12892	blood:	n/a	n/a
34	POLR2A	chr5:147763059-147764442	K562	blood:	n/a	n/a
35	POLR2A	chr5:147762935-147764640	HUVEC	blood vessel:	n/a	n/a
36	PML	chr5:147762895-147764429	GM12878	blood:	n/a	n/a
37	POLR2A	chr5:147762922-147764465	GM12892	blood:	n/a	n/a
38	POLR2A	chr5:147763096-147764379	GM12891	blood:	n/a	n/a
39	POLR2A	chr5:147762536-147765992	GM12878	blood:	n/a	n/a
40	HCFC1	chr5:147762041-147764382	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr5:147762938-147764594	PBDE	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:147548616..147550600-chr5:147763434..147764997,2	MCF-7	breast:
2	chr5:147764022..147766903-chr5:147772422..147774859,3	K562	blood:
3	chr5:147762466..147766033-chr5:147774810..147779515,8	K562	blood:
4	chr5:147762735..147765811-chr5:147775100..147779684,6	MCF-7	breast:
5	chr5:147761605..147765923-chr5:147767275..147775967,11	MCF-7	breast:
6	chr5:147763737..147767286-chr5:147777906..147782200,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPINK9-2	chr5:147764327-147764669	NONHSAT104451

No data

Variant related genes	Relation type
ENSG00000247199	TF binding region
ENSG00000145868	Chromatin interaction
ENSG00000196800	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10515614	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11957411	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs15463	0.88[EUR][1000 genomes]
rs17108157	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs17108171	0.85[AFR][1000 genomes]
rs17776376	1.00[TSI][hapmap]
rs1833767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862429	0.81[LWK][hapmap];0.95[YRI][hapmap]
rs2303056	1.00[CEU][hapmap]
rs3812011	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3815731	1.00[CEU][hapmap]
rs4705254	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs4705255	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4705258	0.85[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs58313354	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58341123	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58502205	0.88[EUR][1000 genomes]
rs58732488	0.83[EUR][1000 genomes]
rs59691479	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60746551	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147761600-147764600	Active TSS	Right Atrium	heart
2	chr5:147762200-147764400	Active TSS	Aorta	Aorta
3	chr5:147762200-147764600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:147762200-147764800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr5:147762200-147765000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:147762400-147764400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:147762400-147764400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:147762400-147764400	Active TSS	Ovary	ovary
9	chr5:147762400-147764600	Active TSS	Psoas Muscle	Psoas
10	chr5:147762400-147764600	Active TSS	HSMM	muscle
11	chr5:147762400-147764600	Active TSS	NHLF	lung
12	chr5:147762600-147764400	Active TSS	Fetal Muscle Trunk	muscle
13	chr5:147762600-147764600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr5:147762600-147764600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:147762600-147764600	Active TSS	Right Ventricle	heart
16	chr5:147762600-147764800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:147762600-147764800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:147762800-147764400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr5:147762800-147764400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr5:147762800-147764400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:147762800-147764400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:147762800-147764400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:147763000-147764400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr5:147763000-147764400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:147763000-147764400	Active TSS	A549	lung
26	chr5:147763800-147764400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr5:147763800-147764400	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr5:147763800-147764400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr5:147763800-147764400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:147763800-147764600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr5:147763800-147764600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr5:147763800-147764600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:147763800-147764600	Flanking Active TSS	Liver	Liver
34	chr5:147763800-147764600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr5:147763800-147764600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr5:147763800-147764800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr5:147763800-147764800	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr5:147763800-147765200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:147763800-147765200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:147764000-147764400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:147764000-147764400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr5:147764000-147764400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:147764000-147764400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:147764000-147764400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:147764000-147764400	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr5:147764000-147764400	Flanking Active TSS	Colonic Mucosa	Colon
47	chr5:147764000-147764400	Flanking Active TSS	Placenta	Placenta
48	chr5:147764000-147764400	Flanking Active TSS	Gastric	stomach
49	chr5:147764000-147764400	Flanking Active TSS	Pancreas	Pancrea
50	chr5:147764000-147764400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon

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