Variant report

Variant	rs806212
Chromosome Location	chr7:127234121-127234122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127233910-127234129	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr7:127233984-127234224	GM12878	blood:	n/a	n/a
3	GABPA	chr7:127233718-127234308	K562	blood:	n/a	n/a
4	POLR2A	chr7:127233895-127234200	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:127232638-127235426	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr7:127233507-127234138	K562	blood:	n/a	n/a
7	POLR2A	chr7:127233736-127234386	GM12891	blood:	n/a	n/a
8	POLR2A	chr7:127233551-127234137	GM12891	blood:	n/a	n/a
9	POLR2A	chr7:127233815-127234175	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:127232444-127234468	MCF10A-Er-Src	breast:	n/a	n/a
11	RFX5	chr7:127233879-127234232	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:127233721-127234283	GM12892	blood:	n/a	n/a
13	POLR2A	chr7:127233823-127234168	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:127233475-127234164	K562	blood:	n/a	n/a
15	POLR2A	chr7:127233526-127234164	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr7:127233727-127234357	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127224949..127227429-chr7:127232952..127234995,2	MCF-7	breast:
2	chr7:127232542..127235287-chr7:127252972..127255661,2	K562	blood:
3	chr7:127227908..127231054-chr7:127231482..127236620,11	MCF-7	breast:
4	chr7:127232880..127234701-chr7:127291672..127293969,3	K562	blood:

No data

Variant related genes	Relation type
FSCN3	TF binding region
GCC1	TF binding region
ENSG00000240790	Chromatin interaction
ENSG00000004059	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000106331	Chromatin interaction
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12536382	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34029720	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3735641	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62483173	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127229600-127241000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:127229800-127237400	Weak transcription	Right Atrium	heart
3	chr7:127230000-127234400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:127231400-127234600	Weak transcription	A549	lung
5	chr7:127231400-127234600	Weak transcription	GM12878-XiMat	blood
6	chr7:127231400-127234600	Weak transcription	HepG2	liver
7	chr7:127231600-127235200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:127231600-127237000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:127231600-127241000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:127232000-127234400	Weak transcription	Esophagus	oesophagus
11	chr7:127232000-127234600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:127232000-127235000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:127232000-127235000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:127232000-127235000	Weak transcription	HUVEC	blood vessel
15	chr7:127232000-127235200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:127232000-127235200	Weak transcription	Gastric	stomach
17	chr7:127232000-127235400	Weak transcription	NHLF	lung
18	chr7:127232000-127235600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:127232000-127235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:127232000-127238200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:127232000-127240600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:127232000-127240600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:127232000-127240800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:127232000-127243200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:127232000-127245600	Weak transcription	Aorta	Aorta
26	chr7:127232200-127234200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:127232200-127234200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:127232200-127234200	Weak transcription	Osteobl	bone
29	chr7:127232200-127234400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr7:127232200-127234400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:127232200-127234600	Weak transcription	Fetal Thymus	thymus
32	chr7:127232200-127234800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:127232200-127235000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:127232200-127235000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:127232200-127235400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:127232200-127236400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:127232200-127237600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:127232200-127238200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:127232200-127240000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:127232200-127240800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:127232200-127241000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:127232200-127241000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:127232200-127241600	Weak transcription	Adipose Nuclei	Adipose
44	chr7:127232200-127248200	Weak transcription	Spleen	Spleen
45	chr7:127232400-127234400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:127232400-127234600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr7:127232400-127234600	Weak transcription	Primary T cells from cord blood	blood
48	chr7:127232400-127234600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:127232400-127235600	Weak transcription	Brain Germinal Matrix	brain
50	chr7:127232400-127240400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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