Variant report

Variant	rs557438501
Chromosome Location	chr7:129250995-129250996
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	POLR2A	chr7:129250839-129252121	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr7:129250864-129251951	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:129250539-129251538	K562	blood:	n/a	n/a
4	CHD1	chr7:129250526-129251642	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr7:129250749-129252088	A549	lung:	n/a	n/a
6	E2F6	chr7:129250759-129252564	K562	blood:	n/a	chr7:129251519-129251530 chr7:129252029-129252038 chr7:129251390-129251400 chr7:129251392-129251401
7	MXI1	chr7:129250841-129252501	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:129250976-129251891	K562	blood:	n/a	n/a
9	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
10	ZBTB33	chr7:129250992-129251802	SK-N-SH	brain:	n/a	n/a
11	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
12	POLR2A	chr7:129250843-129252144	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:129250905-129251945	GM12892	blood:	n/a	n/a
14	MAX	chr7:129250960-129251917	HCT-116	colon:	n/a	n/a
15	POLR2A	chr7:129250615-129252942	GM18505	blood:	n/a	n/a
16	POLR2A	chr7:129250931-129251974	U87	brain:	n/a	n/a
17	BRCA1	chr7:129250972-129251653	Hela-S3	cervix:	n/a	n/a
18	MYC	chr7:129250873-129251891	K562	blood:	n/a	n/a
19	HEY1	chr7:129250446-129252125	K562	blood:	n/a	chr7:129251475-129251490
20	POLR2A	chr7:129250618-129251992	HepG2	liver:	n/a	n/a
21	POLR2A	chr7:129250851-129251771	H1-hESC	embryonic stem cell:	n/a	n/a
22	TBP	chr7:129250898-129252140	K562	blood:	n/a	n/a
23	STAT5A	chr7:129250695-129251631	GM12878	blood:	n/a	chr7:129251524-129251536
24	CHD1	chr7:129250910-129252389	GM12878	blood:	n/a	chr7:129252102-129252112
25	MTA3	chr7:129250762-129251212	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:129250632-129251946	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr7:129249773-129253447	SK-N-SH	brain:	n/a	chr7:129251912-129251924
28	CHD1	chr7:129250339-129253090	IMR90	lung:	n/a	chr7:129252102-129252112
29	POLR2A	chr7:129250866-129251875	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr7:129250694-129252083	K562	blood:	n/a	n/a
31	HCFC1	chr7:129250633-129253406	Hela-S3	cervix:	n/a	n/a
32	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
33	POLR2A	chr7:129250933-129251980	K562	blood:	n/a	n/a
34	POLR2A	chr7:129250846-129251992	H1-neurons	neurons:	n/a	n/a
35	BHLHE40	chr7:129250857-129251787	K562	blood:	n/a	n/a
36	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
37	POLR2A	chr7:129248798-129252081	SK-N-MC	brain:	n/a	n/a
38	MYC	chr7:129250922-129252357	K562	blood:	n/a	chr7:129252330-129252340
39	POLR2A	chr7:129250589-129252003	PFSK-1	brain:	n/a	n/a
40	YY1	chr7:129250786-129252148	GM12892	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
41	MAX	chr7:129250719-129251883	HepG2	liver:	n/a	n/a
42	TAF1	chr7:129250943-129252100	H1-hESC	embryonic stem cell:	n/a	n/a
43	HEY1	chr7:129250989-129252017	K562	blood:	n/a	chr7:129251475-129251490
44	ZBTB7A	chr7:129250668-129250996	K562	blood:	n/a	chr7:129250916-129250924
45	YY1	chr7:129250875-129252033	GM12878	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
46	YY1	chr7:129250708-129252020	SK-N-SH_RA	brain:	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
47	WRNIP1	chr7:129250879-129251281	GM12878	blood:	n/a	n/a
48	POLR2A	chr7:129250268-129251745	GM12878	blood:	n/a	n/a
49	MAX	chr7:129250508-129252797	K562	blood:	n/a	chr7:129252330-129252340
50	POLR2A	chr7:129250863-129251976	U87	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:129250987-129251037	NT2-D1	testis:	n/a
2	chr7:129250987-129251037	SK-N-SH	brain:	n/a
3	chr7:129250987-129251037	NHBE	bronchial:	n/a
4	chr7:129250987-129251037	AG10803	skin:	n/a
5	chr7:129250987-129251037	HL-60	blood:	n/a
6	chr7:129250987-129251037	MCF-7	breast:	n/a
7	chr7:129250987-129251037	HCF	heart:	n/a
8	chr7:129250987-129251037	HCM	heart:	n/a
9	chr7:129250987-129251037	HRCEpiC	kidney:	n/a
10	chr7:129250987-129251037	HIPEpiC	eye:	n/a
11	chr7:129250987-129251037	GM12878	blood:	n/a
12	chr7:129250987-129251037	HRPEpiC	eye:	n/a
13	chr7:129250987-129251037	Hepatocyte	liver:	n/a
14	chr7:129250987-129251037	NHDF-neo	bronchial:	n/a
15	chr7:129250987-129251037	AG09309	skin:	n/a
16	chr7:129250987-129251037	H1-hESC	embryonic stem cell:	embryo
17	chr7:129250987-129251037	Jurkat	blood:	n/a
18	chr7:129250987-129251037	HCPEpiC	choroid plexus:	n/a
19	chr7:129250987-129251037	NB4	blood:	n/a
20	chr7:129250987-129251037	ProgFib	skin:	n/a
21	chr7:129250987-129251037	PrEC	prostate:	n/a
22	chr7:129250987-129251037	GM19239	blood:	n/a
23	chr7:129250987-129251037	CMK	blood:	n/a
24	chr7:129250987-129251037	AG09319	gingival:	n/a
25	chr7:129250987-129251037	IMR90	lung:	fetal
26	chr7:129250987-129251037	T-47D	breast:	n/a
27	chr7:129250987-129251037	SKMC	muscle:	n/a
28	chr7:129250987-129251037	U87	brain:	n/a
29	chr7:129250987-129251037	SK-N-MC	brain:	n/a
30	chr7:129250987-129251037	Hela-S3	cervix:	n/a
31	chr7:129250987-129251037	RPTEC	kidney:	n/a
32	chr7:129250987-129251037	Caco-2	colon:	n/a
33	chr7:129250987-129251037	HCT-116	colon:	n/a
34	chr7:129250987-129251037	MCF10A-Er-Src	breast:	n/a
35	chr7:129250987-129251037	GM12892	blood:	n/a
36	chr7:129250987-129251037	LNCaP	prostate:	n/a
37	chr7:129250987-129251037	PANC-1	pancreas:	n/a
38	chr7:129250987-129251037	HMEC	breast:	n/a
39	chr7:129250987-129251037	K562	blood:	n/a
40	chr7:129250987-129251037	HRE	kidney:	n/a
41	chr7:129250987-129251037	PFSK-1	brain:	n/a
42	chr7:129250987-129251037	BJ	skin:	n/a
43	chr7:129250987-129251037	HNPCEpiC	eye:	n/a
44	chr7:129250987-129251037	HEK293	kidney:	embryo
45	chr7:129250987-129251037	HPAEpiC	pulmonary alveolar:	n/a
46	chr7:129250987-129251037	SAEC	small airway:	n/a
47	chr7:129250987-129251037	HAEpiC	amniotic membrane:	n/a
48	chr7:129250987-129251037	A549	lung:	n/a
49	chr7:129250987-129251037	ECC-1	luminal epithelium:	n/a
50	chr7:129250987-129251037	HEEpiC	esophagus:	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-UBE2H-2	chr7:129244389-129251471	ENSG00000273329.1

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

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	chr7:129250000-129251000	Flanking Active TSS	Dnd41	blood
2	chr7:129250000-129253000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:129250000-129253400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:129250200-129251000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:129250200-129251000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:129250200-129251000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:129250200-129251000	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr7:129250200-129251000	Flanking Active TSS	Fetal Brain Male	brain
9	chr7:129250200-129251000	Flanking Active TSS	Fetal Brain Female	brain
10	chr7:129250200-129251000	Flanking Active TSS	Thymus	Thymus
11	chr7:129250200-129251200	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr7:129250200-129251200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:129250200-129251200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:129250200-129251200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr7:129250200-129251400	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr7:129250200-129252800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:129250200-129252800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr7:129250200-129252800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:129250200-129252800	Active TSS	Fetal Kidney	kidney
20	chr7:129250200-129252800	Active TSS	HSMMtube	muscle
21	chr7:129250200-129253000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr7:129250200-129253000	Active TSS	GM12878-XiMat	blood
23	chr7:129250200-129253400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:129250400-129251000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr7:129250400-129251000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:129250400-129251000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr7:129250400-129251000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr7:129250400-129251000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr7:129250400-129251000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:129250400-129251000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:129250400-129251000	Flanking Active TSS	Liver	Liver
32	chr7:129250400-129251000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr7:129250400-129251000	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr7:129250400-129251000	Flanking Active TSS	Placenta	Placenta
35	chr7:129250400-129251000	Flanking Active TSS	HUVEC	blood vessel
36	chr7:129250400-129251000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr7:129250400-129251000	Flanking Active TSS	NH-A	brain
38	chr7:129250400-129251000	Flanking Active TSS	Osteobl	bone
39	chr7:129250400-129251200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:129250400-129251200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr7:129250400-129251200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr7:129250400-129251200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr7:129250400-129251200	Flanking Active TSS	Fetal Thymus	thymus
44	chr7:129250400-129251400	Active TSS	Stomach Mucosa	stomach
45	chr7:129250400-129252400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr7:129250400-129252400	Active TSS	Rectal Smooth Muscle	rectum
47	chr7:129250400-129252400	Active TSS	Stomach Smooth Muscle	stomach
48	chr7:129250400-129252600	Active TSS	Brain Substantia Nigra	brain
49	chr7:129250400-129252800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:129250400-129253000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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