Variant report

Variant	rs186739129
Chromosome Location	chr7:129250892-129250893
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	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	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
9	POLR2A	chr7:129250843-129252144	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:129250615-129252942	GM18505	blood:	n/a	n/a
11	MYC	chr7:129250873-129251891	K562	blood:	n/a	n/a
12	HEY1	chr7:129250446-129252125	K562	blood:	n/a	chr7:129251475-129251490
13	POLR2A	chr7:129250618-129251992	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:129250851-129251771	H1-hESC	embryonic stem cell:	n/a	n/a
15	STAT5A	chr7:129250695-129251631	GM12878	blood:	n/a	chr7:129251524-129251536
16	MTA3	chr7:129250762-129251212	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:129250632-129251946	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr7:129249773-129253447	SK-N-SH	brain:	n/a	chr7:129251912-129251924
19	CHD1	chr7:129250339-129253090	IMR90	lung:	n/a	chr7:129252102-129252112
20	POLR2A	chr7:129250866-129251875	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr7:129250694-129252083	K562	blood:	n/a	n/a
22	HCFC1	chr7:129250633-129253406	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr7:129250846-129251992	H1-neurons	neurons:	n/a	n/a
24	BHLHE40	chr7:129250857-129251787	K562	blood:	n/a	n/a
25	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
26	POLR2A	chr7:129248798-129252081	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr7:129250589-129252003	PFSK-1	brain:	n/a	n/a
28	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
29	MAX	chr7:129250719-129251883	HepG2	liver:	n/a	n/a
30	ZBTB7A	chr7:129250668-129250996	K562	blood:	n/a	chr7:129250916-129250924
31	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
32	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
33	WRNIP1	chr7:129250879-129251281	GM12878	blood:	n/a	n/a
34	MAZ	chr7:129250765-129250923	K562	blood:	n/a	n/a
35	POLR2A	chr7:129250268-129251745	GM12878	blood:	n/a	n/a
36	MAX	chr7:129250508-129252797	K562	blood:	n/a	chr7:129252330-129252340
37	POLR2A	chr7:129250863-129251976	U87	brain:	n/a	n/a
38	POLR2A	chr7:129250612-129252013	HepG2	liver:	n/a	n/a
39	YY1	chr7:129250780-129252643	SK-N-SH	brain:	n/a	chr7:129251469-129251479 chr7:129251389-129251398 chr7:129251526-129251537 chr7:129251390-129251401 chr7:129251275-129251297 chr7:129251392-129251401 chr7:129251474-129251483 chr7:129252548-129252556 chr7:129251475-129251486 chr7:129251457-129251479
40	RCOR1	chr7:129250565-129251931	K562	blood:	n/a	n/a
41	MYC	chr7:129250692-129252009	NB4	blood:	n/a	n/a
42	POLR2A	chr7:129250811-129251905	HL-60	blood:	n/a	n/a
43	POLR2A	chr7:129250534-129252028	GM12878	blood:	n/a	n/a
44	POLR2A	chr7:129250785-129252798	Raji	blood:	n/a	n/a
45	REST	chr7:129250677-129252685	H1-neurons	neurons:	n/a	chr7:129252053-129252063
46	MAX	chr7:129250725-129251839	NB4	blood:	n/a	n/a
47	POLR2A	chr7:129250449-129252813	K562	blood:	n/a	n/a
48	MAZ	chr7:129250874-129253169	IMR90	lung:	n/a	chr7:129252330-129252340
49	NRF1	chr7:129250436-129252294	SK-N-SH	brain:	n/a	chr7:129251705-129251716
50	POLR2A	chr7:129250476-129252083	MCF10A-Er-Src	breast:	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	chr7:129212889..129217763-chr7:129247804..129250930,5	K562	blood:
7	chr7:128947155..128949553-chr7:129248473..129251078,2	K562	blood:
8	chr7:129122920..129124600-chr7:129249511..129251392,2	MCF-7	breast:
9	chr7:129174530..129176611-chr7:129248438..129250911,2	K562	blood:
10	chr7:129131493..129133001-chr7:129248481..129251293,2	K562	blood:
11	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
ENSG00000158467	Chromatin interaction
ENSG00000106459	Chromatin interaction
ENSG00000128578	Chromatin interaction
ENSG00000240204	Chromatin interaction
ENSG00000199846	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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