Variant report

Variant	rs73720857
Chromosome Location	chr7:127228049-127228050
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	chr7:127227965-127229173	ProgFib	skin:	n/a	n/a
2	RCOR1	chr7:127227637-127229436	IMR90	lung:	n/a	n/a
3	HEY1	chr7:127228036-127229497	K562	blood:	n/a	chr7:127229239-127229254 chr7:127228187-127228202 chr7:127229248-127229263 chr7:127228220-127228235
4	JUND	chr7:127227965-127229242	K562	blood:	n/a	n/a
5	RCOR1	chr7:127227994-127228270	HepG2	liver:	n/a	n/a
6	ZBTB7A	chr7:127227950-127228681	K562	blood:	n/a	chr7:127227982-127227993 chr7:127227983-127227994
7	MAX	chr7:127227763-127229310	HepG2	liver:	n/a	n/a
8	PML	chr7:127227992-127229312	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:127227872-127228778	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr7:127227920-127229264	GM12878	blood:	n/a	n/a
11	CHD2	chr7:127228049-127228659	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZMIZ1	chr7:127228043-127228653	K562	blood:	n/a	n/a
13	MAX	chr7:127227914-127229287	K562	blood:	n/a	n/a
14	HEY1	chr7:127228024-127228746	HepG2	liver:	n/a	chr7:127228187-127228202 chr7:127228220-127228235
15	TBP	chr7:127227967-127229200	K562	blood:	n/a	n/a
16	POLR2A	chr7:127228028-127228712	HCT-116	colon:	n/a	n/a
17	POLR2A	chr7:127227970-127229711	K562	blood:	n/a	n/a
18	SMARCB1	chr7:127227767-127229392	Hela-S3	cervix:	n/a	n/a
19	MAZ	chr7:127227834-127229270	K562	blood:	n/a	n/a
20	ZNF143	chr7:127227975-127228248	K562	blood:	n/a	n/a
21	POLR2A	chr7:127227988-127228846	HUVEC	blood vessel:	n/a	n/a
22	EGR1	chr7:127228020-127229344	HCT-116	colon:	n/a	n/a
23	SMARCC1	chr7:127227896-127229396	Hela-S3	cervix:	n/a	n/a
24	TBL1XR1	chr7:127227989-127228227	K562	blood:	n/a	n/a
25	CREB1	chr7:127227957-127228748	A549	lung:	n/a	n/a
26	POLR2A	chr7:127227915-127229288	U87	brain:	n/a	n/a
27	CTCF	chr7:127228040-127228190	HCM	heart:	n/a	n/a
28	TBP	chr7:127227841-127229305	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr7:127227940-127228090	AG09309	skin:	n/a	n/a
30	MAZ	chr7:127228040-127229424	IMR90	lung:	n/a	n/a
31	E2F6	chr7:127227747-127229187	K562	blood:	n/a	chr7:127228577-127228585 chr7:127228234-127228249 chr7:127227854-127227863 chr7:127228938-127228953
32	POLR2A	chr7:127227868-127229383	PFSK-1	brain:	n/a	n/a
33	SIN3AK20	chr7:127228037-127229215	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr7:127227995-127229258	MCF-7	breast:	n/a	n/a
35	EGR1	chr7:127227845-127229463	HCT-116	colon:	n/a	n/a
36	POLR2A	chr7:127227996-127229259	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:127227992-127229111	K562	blood:	n/a	n/a
38	RCOR1	chr7:127227769-127229284	K562	blood:	n/a	n/a
39	ELF1	chr7:127227921-127229484	GM12878	blood:	n/a	chr7:127228241-127228253
40	SMC3	chr7:127227447-127229528	SK-N-SH	brain:	n/a	chr7:127229017-127229027 chr7:127228184-127228194
41	HEY1	chr7:127227983-127228722	K562	blood:	n/a	chr7:127228187-127228202 chr7:127228220-127228235
42	CTCF	chr7:127227682-127229461	A549	lung:	n/a	chr7:127229014-127229027
43	POLR2A	chr7:127228049-127228652	HepG2	liver:	n/a	n/a
44	MYC	chr7:127227931-127228711	NB4	blood:	n/a	n/a
45	CBX3	chr7:127227536-127229310	K562	blood:	n/a	n/a
46	POLR2A	chr7:127227990-127228740	SK-N-SH	brain:	n/a	n/a
47	ZKSCAN1	chr7:127227799-127228454	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr7:127228029-127228711	U87	brain:	n/a	n/a
49	YY1	chr7:127228034-127228697	K562	blood:	n/a	chr7:127228181-127228192 chr7:127228190-127228201
50	EBF1	chr7:127228013-127228295	GM12878	blood:	n/a	chr7:127228124-127228135 chr7:127228103-127228114

No.	Distal block	Cell Line	Cell type
1	chr7:127226810..127231119-chr7:127290066..127293801,4	MCF-7	breast:
2	chr7:127030656..127034603-chr7:127225190..127230310,7	MCF-7	breast:
3	chr7:127227908..127231054-chr7:127231482..127236620,11	MCF-7	breast:
4	chr7:127029421..127032644-chr7:127225849..127230043,4	K562	blood:
5	chr7:127226125..127229974-chr7:127289784..127293571,8	MCF-7	breast:
6	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
7	chr7:127030702..127032822-chr7:127225677..127228410,2	K562	blood:
8	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:
9	chr7:127223867..127227193-chr7:127227909..127230578,5	MCF-7	breast:

Variant related genes	Relation type
FSCN3	TF binding region
ARF5	TF binding region
GCC1	TF binding region
ENSG00000048405	Chromatin interaction
ENSG00000240790	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000106328	Chromatin interaction
ENSG00000179562	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3757790	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3757791	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3757792	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3779536	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55889918	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56910747	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60535548	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127226400-127228800	Weak transcription	Fetal Heart	heart
2	chr7:127227600-127228200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr7:127227600-127228200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:127227600-127228200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:127227600-127228200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr7:127227600-127228200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr7:127227600-127228200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr7:127227600-127228200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:127227600-127228200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:127227600-127228200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:127227600-127228200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:127227600-127228200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr7:127227600-127228200	Flanking Active TSS	Liver	Liver
14	chr7:127227600-127228200	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr7:127227600-127228200	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr7:127227600-127228200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:127227600-127228200	Flanking Active TSS	Pancreas	Pancrea
18	chr7:127227600-127228200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr7:127227600-127228200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr7:127227600-127228200	Flanking Active TSS	Dnd41	blood
21	chr7:127227600-127228200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr7:127227600-127228400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr7:127227600-127228400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:127227600-127228600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:127227600-127229000	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr7:127227600-127229000	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr7:127227600-127229200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:127227600-127229200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:127227600-127229200	Active TSS	Primary T cells from cord blood	blood
30	chr7:127227600-127229400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:127227800-127228200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr7:127227800-127228200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:127227800-127228200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:127227800-127228200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:127227800-127228200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:127227800-127228200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr7:127227800-127228200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:127227800-127228200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr7:127227800-127228200	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr7:127227800-127228200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr7:127227800-127228200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:127227800-127228200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr7:127227800-127228200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr7:127227800-127228200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:127227800-127228200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr7:127227800-127228200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr7:127227800-127228200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr7:127227800-127228200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:127227800-127228200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:127227800-127228200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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