Variant report

Variant	rs200827284
Chromosome Location	chr7:129250699-129250700
allele	-/AG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:129250539-129251538	K562	blood:	n/a	n/a
2	CHD1	chr7:129250526-129251642	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:129250615-129252942	GM18505	blood:	n/a	n/a
4	HEY1	chr7:129250446-129252125	K562	blood:	n/a	chr7:129251475-129251490
5	POLR2A	chr7:129250618-129251992	HepG2	liver:	n/a	n/a
6	STAT5A	chr7:129250695-129251631	GM12878	blood:	n/a	chr7:129251524-129251536
7	POLR2A	chr7:129250632-129251946	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr7:129249773-129253447	SK-N-SH	brain:	n/a	chr7:129251912-129251924
9	CHD1	chr7:129250339-129253090	IMR90	lung:	n/a	chr7:129252102-129252112
10	POLR2A	chr7:129250694-129252083	K562	blood:	n/a	n/a
11	HCFC1	chr7:129250633-129253406	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:129248798-129252081	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr7:129250589-129252003	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr7:129250391-129250794	GM12892	blood:	n/a	n/a
15	ZBTB7A	chr7:129250668-129250996	K562	blood:	n/a	chr7:129250916-129250924
16	POLR2A	chr7:129250268-129251745	GM12878	blood:	n/a	n/a
17	MAX	chr7:129250508-129252797	K562	blood:	n/a	chr7:129252330-129252340
18	POLR2A	chr7:129250612-129252013	HepG2	liver:	n/a	n/a
19	RCOR1	chr7:129250565-129251931	K562	blood:	n/a	n/a
20	MYC	chr7:129250692-129252009	NB4	blood:	n/a	n/a
21	POLR2A	chr7:129250534-129252028	GM12878	blood:	n/a	n/a
22	REST	chr7:129250677-129252685	H1-neurons	neurons:	n/a	chr7:129252053-129252063
23	POLR2A	chr7:129250449-129252813	K562	blood:	n/a	n/a
24	NRF1	chr7:129250436-129252294	SK-N-SH	brain:	n/a	chr7:129251705-129251716
25	POLR2A	chr7:129250476-129252083	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr7:129250618-129251006	K562	blood:	n/a	n/a
27	TEAD4	chr7:129250426-129252068	K562	blood:	n/a	n/a
28	CTCF	chr7:129250530-129253338	SK-N-SH	brain:	n/a	chr7:129250906-129250919 chr7:129251949-129251962
29	NR2F2	chr7:129250515-129251755	K562	blood:	n/a	n/a
30	PML	chr7:129250598-129251868	K562	blood:	n/a	n/a
31	POLR2A	chr7:129250318-129252111	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr7:129250474-129251742	GM12892	blood:	n/a	n/a
33	GTF3C2	chr7:129250465-129251168	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr7:129250688-129252572	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr7:129250514-129252020	MCF10A-Er-Src	breast:	n/a	n/a
36	CBX3	chr7:129250405-129251710	K562	blood:	n/a	n/a
37	POLR2A	chr7:129250520-129252809	K562	blood:	n/a	n/a
38	SIX5	chr7:129250670-129251560	A549	lung:	n/a	chr7:129250689-129250698
39	JUN	chr7:129248317-129253489	K562	blood:	n/a	chr7:129253092-129253104 chr7:129249696-129249709 chr7:129253258-129253267 chr7:129249723-129249736
40	RCOR1	chr7:129250688-129251690	K562	blood:	n/a	n/a
41	POLR2A	chr7:129250262-129251946	GM12891	blood:	n/a	n/a
42	TCF12	chr7:129250571-129252971	A549	lung:	n/a	n/a
43	POLR2A	chr7:129250536-129252007	IMR90	lung:	n/a	n/a
44	GTF3C2	chr7:129250615-129251037	K562	blood:	n/a	n/a
45	POLR2A	chr7:129250124-129251906	GM12878	blood:	n/a	n/a
46	ZC3H11A	chr7:129250488-129251688	K562	blood:	n/a	n/a
47	MTA3	chr7:129250457-129251749	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

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	chr7:129247164..129250870-chr7:129275593..129280578,4	K562	blood:
8	chr7:128947155..128949553-chr7:129248473..129251078,2	K562	blood:
9	chr7:129122920..129124600-chr7:129249511..129251392,2	MCF-7	breast:
10	chr7:129174530..129176611-chr7:129248438..129250911,2	K562	blood:
11	chr7:129131493..129133001-chr7:129248481..129251293,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2H-2	chr7:129242678-129251482	NONHSAT123298
2	lnc-NRF1-1	chr7:129250564-129250711	NONHSAT123300
3	lnc-UBE2H-2	chr7:129244389-129251471	ENSG00000273329.1

No data

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

Extended variants
information (count: 1 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129245800-129250800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:129249200-129250800	Weak transcription	Gastric	stomach
3	chr7:129249400-129250800	Enhancers	Spleen	Spleen
4	chr7:129250000-129250800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:129250000-129250800	Enhancers	Small Intestine	intestine
6	chr7:129250000-129251000	Flanking Active TSS	Dnd41	blood
7	chr7:129250000-129253000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:129250000-129253400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:129250200-129250800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:129250200-129250800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:129250200-129250800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr7:129250200-129250800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr7:129250200-129250800	Flanking Active TSS	Hela-S3	cervix
14	chr7:129250200-129250800	Flanking Active TSS	HMEC	breast
15	chr7:129250200-129251000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:129250200-129251000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:129250200-129251000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:129250200-129251000	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr7:129250200-129251000	Flanking Active TSS	Fetal Brain Male	brain
20	chr7:129250200-129251000	Flanking Active TSS	Fetal Brain Female	brain
21	chr7:129250200-129251000	Flanking Active TSS	Thymus	Thymus
22	chr7:129250200-129251200	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr7:129250200-129251200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:129250200-129251200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:129250200-129251200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr7:129250200-129251400	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr7:129250200-129252800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:129250200-129252800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr7:129250200-129252800	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr7:129250200-129252800	Active TSS	Fetal Kidney	kidney
31	chr7:129250200-129252800	Active TSS	HSMMtube	muscle
32	chr7:129250200-129253000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr7:129250200-129253000	Active TSS	GM12878-XiMat	blood
34	chr7:129250200-129253400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr7:129250400-129250800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr7:129250400-129250800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:129250400-129250800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:129250400-129250800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr7:129250400-129250800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:129250400-129250800	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr7:129250400-129250800	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr7:129250400-129250800	Flanking Active TSS	Colonic Mucosa	Colon
43	chr7:129250400-129250800	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr7:129250400-129250800	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr7:129250400-129250800	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr7:129250400-129250800	Flanking Active TSS	Fetal Lung	lung
47	chr7:129250400-129250800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
48	chr7:129250400-129250800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr7:129250400-129250800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr7:129250400-129250800	Flanking Active TSS	Right Ventricle	heart

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