Variant report

Variant	rs56910747
Chromosome Location	chr7:127226152-127226153
allele	C/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	JUN	chr7:127224806-127227054	K562	blood:	n/a	chr7:127225673-127225682 chr7:127225672-127225685
2	REST	chr7:127225027-127226295	H1-neurons	neurons:	n/a	chr7:127225530-127225548 chr7:127225553-127225563
3	POLR2A	chr7:127225270-127226268	PBDE	blood:	n/a	n/a
4	POLR2A	chr7:127225251-127226176	U87	brain:	n/a	n/a
5	MAX	chr7:127225323-127226160	K562	blood:	n/a	chr7:127225576-127225585
6	ELF1	chr7:127225054-127226169	HCT-116	colon:	n/a	chr7:127225456-127225468 chr7:127225455-127225464
7	POLR2A	chr7:127225237-127226186	HCT-116	colon:	n/a	n/a
8	NR2F2	chr7:127224924-127226631	K562	blood:	n/a	n/a
9	MXI1	chr7:127223511-127226381	SK-N-SH	brain:	n/a	n/a
10	CREB1	chr7:127225245-127226181	H1-hESC	embryonic stem cell:	n/a	chr7:127225671-127225684
11	E2F6	chr7:127225409-127226194	H1-hESC	embryonic stem cell:	n/a	chr7:127225779-127225790 chr7:127225458-127225467 chr7:127225672-127225681 chr7:127225674-127225683
12	POLR2A	chr7:127225024-127226157	U87	brain:	n/a	n/a
13	MAX	chr7:127224875-127226166	SK-N-SH	brain:	n/a	chr7:127225301-127225311 chr7:127225576-127225585 chr7:127225255-127225264
14	MAX	chr7:127225313-127226172	A549	lung:	n/a	chr7:127225576-127225585
15	POLR2A	chr7:127225215-127226615	HepG2	liver:	n/a	n/a
16	HCFC1	chr7:127225027-127226315	Hela-S3	cervix:	n/a	n/a
17	ZNF143	chr7:127225371-127226291	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr7:127225432-127226176	K562	blood:	n/a	n/a
19	E2F6	chr7:127225353-127226232	A549	lung:	n/a	chr7:127225779-127225790 chr7:127225458-127225467 chr7:127225672-127225681 chr7:127225674-127225683
20	MAX	chr7:127225243-127226153	HepG2	liver:	n/a	chr7:127225301-127225311 chr7:127225576-127225585 chr7:127225255-127225264
21	BHLHE40	chr7:127225410-127226386	K562	blood:	n/a	chr7:127225556-127225572
22	CREB1	chr7:127224666-127226159	K562	blood:	n/a	chr7:127225671-127225684
23	POLR2A	chr7:127224847-127226416	MCF10A-Er-Src	breast:	n/a	n/a
24	GABPA	chr7:127225207-127226313	SK-N-SH	brain:	n/a	chr7:127225300-127225309
25	MAZ	chr7:127225114-127226685	IMR90	lung:	n/a	chr7:127225301-127225311 chr7:127225576-127225585 chr7:127225255-127225264
26	SETDB1	chr7:127225591-127226213	U2OS	brain:	n/a	n/a
27	POLR2A	chr7:127225331-127226282	K562	blood:	n/a	n/a
28	SIN3AK20	chr7:127225018-127226182	MCF-7	breast:	n/a	n/a
29	TBL1XR1	chr7:127225682-127226178	K562	blood:	n/a	n/a
30	MAX	chr7:127225103-127226316	A549	lung:	n/a	chr7:127225301-127225311 chr7:127225576-127225585 chr7:127225255-127225264
31	GABPA	chr7:127224916-127226264	MCF-7	breast:	n/a	chr7:127225300-127225309
32	E2F6	chr7:127225350-127226533	K562	blood:	n/a	chr7:127225779-127225790 chr7:127225458-127225467 chr7:127225672-127225681 chr7:127225674-127225683
33	CBX3	chr7:127225184-127226559	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:127030656..127034603-chr7:127225190..127230310,7	MCF-7	breast:
2	chr7:127223867..127227193-chr7:127227909..127230578,5	MCF-7	breast:
3	chr7:127029421..127032644-chr7:127225849..127230043,4	K562	blood:
4	chr7:127226125..127229974-chr7:127289784..127293571,8	MCF-7	breast:
5	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
6	chr7:127224949..127227429-chr7:127232952..127234995,2	MCF-7	breast:
7	chr7:127030702..127032822-chr7:127225677..127228410,2	K562	blood:
8	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:

Variant related genes	Relation type
GCC1	TF binding region
ARF5	TF binding region
ENSG00000240790	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000106328	Chromatin interaction
ENSG00000048405	Chromatin interaction
ENSG00000004059	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	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3757791	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3757792	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3779536	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55889918	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60535548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73720857	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127224600-127226200	Active TSS	Aorta	Aorta
2	chr7:127224600-127226400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:127225000-127226200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:127225000-127226200	Active TSS	Fetal Brain Female	brain
5	chr7:127225000-127226200	Active TSS	Psoas Muscle	Psoas
6	chr7:127225000-127226200	Active TSS	Right Atrium	heart
7	chr7:127225000-127226200	Active TSS	HSMMtube	muscle
8	chr7:127225000-127226400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:127225200-127226200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:127225200-127226200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:127225200-127226200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:127225200-127226200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:127225200-127226200	Active TSS	Colonic Mucosa	Colon
14	chr7:127225200-127226200	Active TSS	Esophagus	oesophagus
15	chr7:127225200-127226200	Active TSS	Right Ventricle	heart
16	chr7:127225200-127226200	Active TSS	Stomach Smooth Muscle	stomach
17	chr7:127225200-127226200	Active TSS	NH-A	brain
18	chr7:127225200-127226400	Active TSS	Fetal Brain Male	brain
19	chr7:127225600-127226200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:127225600-127226400	Flanking Active TSS	Dnd41	blood
21	chr7:127225800-127226200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr7:127225800-127226200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr7:127225800-127226200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:127225800-127226200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
25	chr7:127225800-127226200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr7:127225800-127226200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr7:127225800-127226200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:127225800-127226200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:127225800-127226200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:127225800-127226200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr7:127225800-127226200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr7:127225800-127226200	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr7:127225800-127226200	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr7:127225800-127226200	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr7:127225800-127226200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr7:127225800-127226200	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr7:127225800-127226200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:127225800-127226200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr7:127225800-127226200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr7:127225800-127226200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:127225800-127226200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr7:127225800-127226200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr7:127225800-127226200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:127225800-127226200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:127225800-127226200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr7:127225800-127226200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:127225800-127226200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:127225800-127226200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:127225800-127226200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr7:127225800-127226200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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