Variant report

Variant	rs11570363
Chromosome Location	chr7:129251065-129251066
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	chr7:129250839-129252121	HUVEC	blood vessel:	n/a	n/a
2	YY1	chr7:129251054-129252101	GM12891	blood:	n/a	chr7:129251469-129251479 chr7:129251389-129251398 chr7:129251526-129251537 chr7:129251390-129251401 chr7:129251275-129251297 chr7:129251392-129251401 chr7:129251474-129251483 chr7:129251475-129251486 chr7:129251457-129251479
3	MAX	chr7:129250864-129251951	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:129250539-129251538	K562	blood:	n/a	n/a
5	CHD1	chr7:129250526-129251642	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr7:129250749-129252088	A549	lung:	n/a	n/a
7	E2F6	chr7:129250759-129252564	K562	blood:	n/a	chr7:129251519-129251530 chr7:129252029-129252038 chr7:129251390-129251400 chr7:129251392-129251401
8	YY1	chr7:129251049-129251668	HepG2	liver:	n/a	chr7:129251469-129251479 chr7:129251389-129251398 chr7:129251526-129251537 chr7:129251390-129251401 chr7:129251275-129251297 chr7:129251392-129251401 chr7:129251474-129251483 chr7:129251475-129251486 chr7:129251457-129251479
9	MXI1	chr7:129250841-129252501	HepG2	liver:	n/a	n/a
10	TAF1	chr7:129251062-129251754	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:129250976-129251891	K562	blood:	n/a	n/a
12	YY1	chr7:129250959-129252418	HepG2	liver:	n/a	chr7:129251469-129251479 chr7:129251389-129251398 chr7:129251526-129251537 chr7:129251390-129251401 chr7:129251275-129251297 chr7:129251392-129251401 chr7:129251474-129251483 chr7:129251475-129251486 chr7:129251457-129251479
13	POLR2A	chr7:129251034-129251787	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZBTB33	chr7:129250992-129251802	SK-N-SH	brain:	n/a	n/a
15	YY1	chr7:129250864-129251853	H1-hESC	embryonic stem cell:	n/a	chr7:129251469-129251479 chr7:129251389-129251398 chr7:129251526-129251537 chr7:129251390-129251401 chr7:129251275-129251297 chr7:129251392-129251401 chr7:129251474-129251483 chr7:129251475-129251486 chr7:129251457-129251479
16	POLR2A	chr7:129250843-129252144	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:129251055-129251814	HUVEC	blood vessel:	n/a	n/a
18	MAZ	chr7:129251044-129252072	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:129250905-129251945	GM12892	blood:	n/a	n/a
20	MAX	chr7:129250960-129251917	HCT-116	colon:	n/a	n/a
21	POLR2A	chr7:129250615-129252942	GM18505	blood:	n/a	n/a
22	POLR2A	chr7:129250931-129251974	U87	brain:	n/a	n/a
23	BRCA1	chr7:129250972-129251653	Hela-S3	cervix:	n/a	n/a
24	MYC	chr7:129250873-129251891	K562	blood:	n/a	n/a
25	HEY1	chr7:129250446-129252125	K562	blood:	n/a	chr7:129251475-129251490
26	POLR2A	chr7:129250618-129251992	HepG2	liver:	n/a	n/a
27	RUNX3	chr7:129251021-129252044	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:129250851-129251771	H1-hESC	embryonic stem cell:	n/a	n/a
29	ATF2	chr7:129251064-129251680	GM12878	blood:	n/a	n/a
30	TBP	chr7:129250898-129252140	K562	blood:	n/a	n/a
31	STAT5A	chr7:129250695-129251631	GM12878	blood:	n/a	chr7:129251524-129251536
32	YY1	chr7:129251013-129251788	ECC-1	luminal epithelium:	n/a	chr7:129251469-129251479 chr7:129251389-129251398 chr7:129251526-129251537 chr7:129251390-129251401 chr7:129251275-129251297 chr7:129251392-129251401 chr7:129251474-129251483 chr7:129251475-129251486 chr7:129251457-129251479
33	CHD1	chr7:129250910-129252389	GM12878	blood:	n/a	chr7:129252102-129252112
34	TAF1	chr7:129251025-129251702	A549	lung:	n/a	n/a
35	MTA3	chr7:129250762-129251212	GM12878	blood:	n/a	n/a
36	TAF1	chr7:129251051-129251931	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr7:129250632-129251946	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr7:129249773-129253447	SK-N-SH	brain:	n/a	chr7:129251912-129251924
39	CHD1	chr7:129250339-129253090	IMR90	lung:	n/a	chr7:129252102-129252112
40	POLR2A	chr7:129250866-129251875	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr7:129250694-129252083	K562	blood:	n/a	n/a
42	USF2	chr7:129251011-129251295	Hela-S3	cervix:	n/a	n/a
43	HCFC1	chr7:129250633-129253406	Hela-S3	cervix:	n/a	n/a
44	YY1	chr7:129250961-129251994	ECC-1	luminal epithelium:	n/a	chr7:129251469-129251479 chr7:129251389-129251398 chr7:129251526-129251537 chr7:129251390-129251401 chr7:129251275-129251297 chr7:129251392-129251401 chr7:129251474-129251483 chr7:129251475-129251486 chr7:129251457-129251479
45	CUX1	chr7:129251062-129251605	K562	blood:	n/a	n/a
46	POLR2A	chr7:129250933-129251980	K562	blood:	n/a	n/a
47	POLR2A	chr7:129250846-129251992	H1-neurons	neurons:	n/a	n/a
48	BHLHE40	chr7:129250857-129251787	K562	blood:	n/a	n/a
49	YY1	chr7:129250807-129252536	K562	blood:	n/a	chr7:129251469-129251479 chr7:129251389-129251398 chr7:129251526-129251537 chr7:129251390-129251401 chr7:129251275-129251297 chr7:129251392-129251401 chr7:129251474-129251483 chr7:129251475-129251486 chr7:129251457-129251479
50	POLR2A	chr7:129248798-129252081	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128861878..128864970-chr7:129248280..129251155,3	K562	blood:
2	chr7:129249547..129251363-chr7:129284071..129286365,2	K562	blood:
3	chr7:129141127..129144491-chr7:129250183..129252967,6	MCF-7	breast:
4	chr7:129250084..129252552-chr7:129268663..129271453,3	MCF-7	breast:
5	chr7:129139279..129144298-chr7:129248057..129253593,12	MCF-7	breast:
6	chr19:46497864..46498825-chr7:129250928..129251445,2	NB4	blood:
7	chr7:128947155..128949553-chr7:129248473..129251078,2	K562	blood:
8	chr7:129122920..129124600-chr7:129249511..129251392,2	MCF-7	breast:
9	chr7:129131493..129133001-chr7:129248481..129251293,2	K562	blood:
10	chr7:129072757..129075659-chr7:129250844..129252909,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2H-2	chr7:129242678-129251482	NONHSAT123298
2	lnc-NRF1-1	chr7:129251049-129251405	NONHSAT123300
3	lnc-UBE2H-2	chr7:129244389-129251471	ENSG00000273329.1

Variant related genes	Relation type
NRF1	TF binding region
ENSG00000106459	Chromatin interaction
ENSG00000158467	Chromatin interaction
ENSG00000128578	Chromatin interaction
ENSG00000199846	Chromatin interaction
ENSG00000240204	Chromatin interaction
ENSG00000104983	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10954245	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954248	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10954251	0.88[ASN][1000 genomes]
rs11760589	0.88[ASN][1000 genomes]
rs11761434	0.87[ASN][1000 genomes]
rs11769146	0.87[ASN][1000 genomes]
rs11769676	0.87[EUR][1000 genomes]
rs11773023	0.87[ASN][1000 genomes]
rs11975979	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12154342	0.83[ASN][1000 genomes]
rs12154677	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13225629	0.87[ASN][1000 genomes]
rs13226276	0.85[ASN][1000 genomes]
rs13230677	0.87[ASN][1000 genomes]
rs13231538	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13236221	0.88[ASN][1000 genomes]
rs13244638	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17556221	0.88[ASN][1000 genomes]
rs17556430	0.87[ASN][1000 genomes]
rs1962038	0.87[ASN][1000 genomes]
rs2293629	0.83[ASN][1000 genomes]
rs2402967	0.88[ASN][1000 genomes]
rs2402975	0.87[ASN][1000 genomes]
rs34038233	0.87[EUR][1000 genomes]
rs34498715	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36017781	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36033773	0.88[ASN][1000 genomes]
rs36083190	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736626	0.87[ASN][1000 genomes]
rs3800599	0.87[ASN][1000 genomes]
rs6953987	0.88[ASN][1000 genomes]
rs6959550	0.82[ASN][1000 genomes]
rs6975927	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976516	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3354852	chr7:129250541-129253089	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3394004	chr7:129250866-129253189	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr7:129250000-129253000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:129250000-129253400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:129250200-129251200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr7:129250200-129251200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:129250200-129251200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:129250200-129251200	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr7:129250200-129251400	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr7:129250200-129252800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:129250200-129252800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr7:129250200-129252800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:129250200-129252800	Active TSS	Fetal Kidney	kidney
12	chr7:129250200-129252800	Active TSS	HSMMtube	muscle
13	chr7:129250200-129253000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr7:129250200-129253000	Active TSS	GM12878-XiMat	blood
15	chr7:129250200-129253400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:129250400-129251200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:129250400-129251200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr7:129250400-129251200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr7:129250400-129251200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr7:129250400-129251200	Flanking Active TSS	Fetal Thymus	thymus
21	chr7:129250400-129251400	Active TSS	Stomach Mucosa	stomach
22	chr7:129250400-129252400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr7:129250400-129252400	Active TSS	Rectal Smooth Muscle	rectum
24	chr7:129250400-129252400	Active TSS	Stomach Smooth Muscle	stomach
25	chr7:129250400-129252600	Active TSS	Brain Substantia Nigra	brain
26	chr7:129250400-129252800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:129250400-129253000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:129250400-129253000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:129250400-129253000	Active TSS	Fetal Intestine Small	intestine
30	chr7:129250400-129253000	Active TSS	HSMM	muscle
31	chr7:129250400-129253000	Active TSS	NHDF-Ad	bronchial
32	chr7:129250400-129253200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr7:129250400-129253200	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr7:129250400-129253200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:129250400-129253200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr7:129250400-129253200	Active TSS	NHLF	lung
37	chr7:129250400-129253400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:129250400-129253400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr7:129250600-129251200	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr7:129250600-129251200	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr7:129250600-129251200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:129250600-129251200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr7:129250600-129251200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr7:129250600-129251400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr7:129250600-129251400	Active TSS	Fetal Heart	heart
46	chr7:129250600-129251400	Active TSS	Right Atrium	heart
47	chr7:129250600-129252400	Active TSS	Fetal Stomach	stomach
48	chr7:129250600-129252800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:129250600-129252800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr7:129250600-129253000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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