Variant report

Variant	rs7083630
Chromosome Location	chr10:91174148-91174149
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	POLR2A	chr10:91173608-91175392	GM12878	blood:	n/a	n/a
2	CHD1	chr10:91174007-91175505	GM12878	blood:	n/a	chr10:91174671-91174681
3	POLR2A	chr10:91173843-91174733	PBDE	blood:	n/a	n/a
4	NRF1	chr10:91174082-91174628	GM12878	blood:	n/a	chr10:91174445-91174459 chr10:91174451-91174465 chr10:91174451-91174460 chr10:91174445-91174456 chr10:91174451-91174462 chr10:91174442-91174456 chr10:91174445-91174454
5	POLR2A	chr10:91174027-91174625	K562	blood:	n/a	n/a
6	FOXM1	chr10:91173993-91174607	GM12878	blood:	n/a	n/a
7	MAX	chr10:91174139-91175590	HepG2	liver:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
8	BCLAF1	chr10:91173965-91174715	GM12878	blood:	n/a	chr10:91174321-91174330
9	SIN3A	chr10:91173739-91175457	H1-hESC	embryonic stem cell:	n/a	chr10:91175017-91175026 chr10:91174537-91174548 chr10:91175046-91175059 chr10:91175034-91175043 chr10:91174485-91174499
10	POLR2A	chr10:91174048-91174793	U87	brain:	n/a	n/a
11	CTBP2	chr10:91174066-91175091	H1-hESC	embryonic stem cell:	n/a	n/a
12	CCNT2	chr10:91174126-91174595	K562	blood:	n/a	chr10:91174376-91174385
13	GATA1	chr10:91173874-91175539	PBDE	blood:	n/a	chr10:91175287-91175297 chr10:91174172-91174181
14	MXI1	chr10:91174074-91175142	HepG2	liver:	n/a	n/a
15	TAF1	chr10:91173944-91175228	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr10:91174136-91174703	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr10:91173633-91175510	MCF10A-Er-Src	breast:	n/a	n/a
18	TBL1XR1	chr10:91173990-91175486	GM12878	blood:	n/a	n/a
19	MAX	chr10:91173961-91175539	HepG2	liver:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
20	WRNIP1	chr10:91173745-91174657	GM12878	blood:	n/a	n/a
21	ATF2	chr10:91174047-91174464	GM12878	blood:	n/a	n/a
22	SMC3	chr10:91173906-91174988	GM12878	blood:	n/a	n/a
23	RELA	chr10:91173972-91175518	GM15510	blood:	n/a	n/a
24	POLR2A	chr10:91174089-91174680	Hela-S3	cervix:	n/a	n/a
25	MAZ	chr10:91174047-91174516	Hela-S3	cervix:	n/a	n/a
26	SIN3AK20	chr10:91174018-91174574	H1-hESC	embryonic stem cell:	n/a	n/a
27	YY1	chr10:91174120-91175497	GM12891	blood:	n/a	chr10:91174993-91175007 chr10:91174994-91175008 chr10:91174982-91174996 chr10:91174376-91174387 chr10:91174800-91174811 chr10:91174993-91175002
28	BRCA1	chr10:91173993-91174556	Hela-S3	cervix:	n/a	n/a
29	HA-E2F1	chr10:91174135-91174918	MCF-7	breast:	n/a	chr10:91174446-91174455 chr10:91174452-91174461
30	POLR2A	chr10:91174094-91175417	GM12878	blood:	n/a	n/a
31	POLR2A	chr10:91174024-91174752	U87	brain:	n/a	n/a
32	TAF1	chr10:91174083-91174344	GM12891	blood:	n/a	n/a
33	IRF4	chr10:91173931-91174354	GM12878	blood:	n/a	chr10:91174301-91174315 chr10:91174275-91174289 chr10:91174303-91174317 chr10:91174318-91174332 chr10:91174277-91174291 chr10:91174273-91174294
34	POLR2A	chr10:91174148-91174165	HepG2	liver:	n/a	n/a
35	KAP1	chr10:91173807-91175476	HEK293	kidney:	n/a	n/a
36	TBP	chr10:91173709-91174602	GM12878	blood:	n/a	n/a
37	TAF1	chr10:91174101-91174668	H1-hESC	embryonic stem cell:	n/a	n/a
38	EBF1	chr10:91173851-91174409	GM12878	blood:	n/a	chr10:91174064-91174075
39	POLR2A	chr10:91173805-91175564	GM12878	blood:	n/a	n/a
40	RUNX3	chr10:91174004-91175532	GM12878	blood:	n/a	chr10:91175121-91175138
41	RELA	chr10:91173987-91174556	GM19099	blood:	n/a	n/a
42	SMC3	chr10:91173915-91174715	Hela-S3	cervix:	n/a	n/a
43	MAFK	chr10:91173820-91174583	Hela-S3	cervix:	n/a	chr10:91174147-91174161
44	POLR2A	chr10:91174049-91174909	GM12891	blood:	n/a	n/a
45	IRF1	chr10:91173799-91174555	K562	blood:	n/a	chr10:91174276-91174290 chr10:91174279-91174293 chr10:91174278-91174291 chr10:91174304-91174317 chr10:91174319-91174332 chr10:91174301-91174315 chr10:91174318-91174325 chr10:91174303-91174317 chr10:91174303-91174316 chr10:91174278-91174291 chr10:91174276-91174290 chr10:91174319-91174330 chr10:91174301-91174318 chr10:91174316-91174333 chr10:91174277-91174287 chr10:91174320-91174330 chr10:91174278-91174291 chr10:91174302-91174316 chr10:91174317-91174331 chr10:91174278-91174292 chr10:91174316-91174330 chr10:91174319-91174332 chr10:91174278-91174289 chr10:91174304-91174317 chr10:91174320-91174334 chr10:91174304-91174317 chr10:91174319-91174332 chr10:91174275-91174289 chr10:91174303-91174313 chr10:91174277-91174291 chr10:91174302-91174316 chr10:91174318-91174332 chr10:91174304-91174318 chr10:91174319-91174332 chr10:91174304-91174315 chr10:91174275-91174292 chr10:91174277-91174290 chr10:91174278-91174291 chr10:91174319-91174333 chr10:91174273-91174294
46	POLR2A	chr10:91174018-91174655	GM12891	blood:	n/a	n/a
47	STAT5A	chr10:91173963-91174630	GM12878	blood:	n/a	chr10:91174304-91174315 chr10:91174319-91174330 chr10:91174278-91174289
48	RAD21	chr10:91174006-91174627	Hela-S3	cervix:	n/a	chr10:91174429-91174442 chr10:91174538-91174551
49	GTF2F1	chr10:91173743-91174675	Hela-S3	cervix:	n/a	n/a
50	TBP	chr10:91174094-91175428	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:91174099-91174149	SK-N-SH	brain:	n/a
2	chr10:91174099-91174149	HRPEpiC	eye:	n/a
3	chr10:91174099-91174149	CMK	blood:	n/a
4	chr10:91174099-91174149	PrEC	prostate:	n/a
5	chr10:91174099-91174149	AG04449	skin:	fetal
6	chr10:91174099-91174149	HAEpiC	amniotic membrane:	n/a
7	chr10:91174099-91174149	ECC-1	luminal epithelium:	n/a
8	chr10:91174099-91174149	GM19239	blood:	n/a
9	chr10:91174099-91174149	AoSMC	blood vessel:	n/a
10	chr10:91174099-91174149	BE2_C	brain:	n/a
11	chr10:91174099-91174149	HRCEpiC	kidney:	n/a
12	chr10:91174099-91174149	H1-hESC	embryonic stem cell:	embryo
13	chr10:91174099-91174149	HCM	heart:	n/a
14	chr10:91174099-91174149	NB4	blood:	n/a
15	chr10:91174099-91174149	HEK293	kidney:	embryo
16	chr10:91174099-91174149	Hepatocyte	liver:	n/a
17	chr10:91174099-91174149	AG09319	gingival:	n/a
18	chr10:91174099-91174149	AG09309	skin:	n/a
19	chr10:91174099-91174149	HMEC	breast:	n/a
20	chr10:91174099-91174149	HPAEpiC	pulmonary alveolar:	n/a
21	chr10:91174099-91174149	HCT-116	colon:	n/a
22	chr10:91174099-91174149	HCPEpiC	choroid plexus:	n/a
23	chr10:91174099-91174149	BJ	skin:	n/a
24	chr10:91174099-91174149	HRE	kidney:	n/a
25	chr10:91174099-91174149	HNPCEpiC	eye:	n/a
26	chr10:91174099-91174149	HL-60	blood:	n/a
27	chr10:91174099-91174149	IMR90	lung:	fetal
28	chr10:91174099-91174149	NH-A	brain:	n/a
29	chr10:91174099-91174149	PANC-1	pancreas:	n/a
30	chr10:91174099-91174149	RPTEC	kidney:	n/a
31	chr10:91174099-91174149	MCF-7	breast:	n/a
32	chr10:91174099-91174149	NT2-D1	testis:	n/a
33	chr10:91174099-91174149	NHDF-neo	bronchial:	n/a
34	chr10:91174099-91174149	HepG2	liver:	n/a
35	chr10:91174099-91174149	LNCaP	prostate:	n/a
36	chr10:91174099-91174149	SK-N-MC	brain:	n/a
37	chr10:91174099-91174149	HCF	heart:	n/a
38	chr10:91174099-91174149	Jurkat	blood:	n/a
39	chr10:91174099-91174149	PFSK-1	brain:	n/a
40	chr10:91174099-91174149	HIPEpiC	eye:	n/a
41	chr10:91174099-91174149	K562	blood:	n/a
42	chr10:91174099-91174149	SK-N-SH_RA	brain:	n/a
43	chr10:91174099-91174149	HUVEC	blood vessel:	n/a
44	chr10:91174099-91174149	MCF10A-Er-Src	breast:	n/a
45	chr10:91174099-91174149	ProgFib	skin:	n/a
46	chr10:91174099-91174149	AG10803	skin:	n/a
47	chr10:91174099-91174149	T-47D	breast:	n/a
48	chr10:91174099-91174149	GM12891	blood:	n/a
49	chr10:91174099-91174149	SKMC	muscle:	n/a
50	chr10:91174099-91174149	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91172637..91174188-chr10:91459994..91461922,2	MCF-7	breast:
2	chr10:91157615..91160495-chr10:91173578..91176122,3	MCF-7	breast:

Variant related genes	Relation type
IFIT5	TF binding region
IFIT5	CpG island
ENSG00000138182	Chromatin interaction
ENSG00000185745	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10887951	0.87[ASN][1000 genomes]
rs10887952	0.87[ASN][1000 genomes]
rs10887954	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10887955	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10887956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203111	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203120	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11203124	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11498636	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121427	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1819443	0.80[ASN][1000 genomes]
rs2863759	0.87[ASN][1000 genomes]
rs59350558	0.87[ASN][1000 genomes]
rs6586192	0.87[ASN][1000 genomes]
rs7075004	0.87[ASN][1000 genomes]
rs7095488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096890	0.87[ASN][1000 genomes]
rs74146950	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7897602	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv819719	chr10:91165763-91174600	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 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	chr10:91173400-91174200	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr10:91173400-91174200	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr10:91173400-91175400	Active TSS	Fetal Lung	lung
4	chr10:91173400-91175600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:91173400-91175600	Active TSS	NHDF-Ad	bronchial
6	chr10:91173600-91174200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr10:91173600-91174200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr10:91173600-91174200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr10:91173600-91174200	Flanking Active TSS	Liver	Liver
10	chr10:91173600-91174200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr10:91173600-91174400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:91173600-91174400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:91173600-91174600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:91173600-91174600	Active TSS	K562	blood
15	chr10:91173600-91174800	Active TSS	HMEC	breast
16	chr10:91173600-91175000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr10:91173600-91175000	Active TSS	Primary T cells fromperipheralblood	blood
18	chr10:91173600-91175000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:91173600-91175000	Active TSS	Fetal Thymus	thymus
20	chr10:91173600-91175200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr10:91173600-91175200	Active TSS	Fetal Muscle Leg	muscle
22	chr10:91173600-91175400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:91173600-91175400	Active TSS	Fetal Brain Female	brain
24	chr10:91173600-91175400	Active TSS	Fetal Muscle Trunk	muscle
25	chr10:91173600-91175600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr10:91173600-91175600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr10:91173600-91175600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:91173600-91175600	Active TSS	Aorta	Aorta
29	chr10:91173600-91175600	Active TSS	Fetal Kidney	kidney
30	chr10:91173600-91176000	Active TSS	GM12878-XiMat	blood
31	chr10:91173600-91176200	Active TSS	Right Atrium	heart
32	chr10:91173600-91176200	Active TSS	HSMM	muscle
33	chr10:91173800-91174200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:91173800-91174200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr10:91173800-91174200	Flanking Active TSS	HSMMtube	muscle
36	chr10:91173800-91174200	Flanking Active TSS	NH-A	brain
37	chr10:91173800-91174400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:91173800-91174600	Active TSS	Brain Germinal Matrix	brain
39	chr10:91173800-91174600	Active TSS	HUVEC	blood vessel
40	chr10:91173800-91174800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:91173800-91174800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:91173800-91175000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:91173800-91175000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:91173800-91175000	Active TSS	Dnd41	blood
45	chr10:91173800-91175200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr10:91173800-91175200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr10:91173800-91175200	Active TSS	Fetal Intestine Small	intestine
48	chr10:91173800-91175200	Active TSS	Placenta Amnion	Placenta Amnion
49	chr10:91173800-91175400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr10:91173800-91175400	Active TSS	H9 Cell Line	embryonic stem cell

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