Variant report

Variant	rs113905981
Chromosome Location	chr7:150946022-150946023
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	SMARCB1	chr7:150945391-150946629	Hela-S3	cervix:	n/a	n/a
2	CTBP2	chr7:150945773-150946525	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr7:150945821-150946057	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr7:150945593-150946056	SK-N-SH	brain:	n/a	n/a
5	UBTF	chr7:150945626-150946521	K562	blood:	n/a	n/a
6	E2F6	chr7:150945994-150946648	A549	lung:	n/a	chr7:150946091-150946100 chr7:150946063-150946072
7	TBL1XR1	chr7:150945740-150946022	K562	blood:	n/a	n/a
8	EP300	chr7:150945205-150946525	SK-N-SH	brain:	n/a	chr7:150946151-150946160
9	ETS1	chr7:150945805-150946116	K562	blood:	n/a	chr7:150946055-150946066 chr7:150946089-150946100
10	MAX	chr7:150945830-150946059	K562	blood:	n/a	n/a
11	REST	chr7:150945864-150946058	H1-hESC	embryonic stem cell:	n/a	n/a
12	MEF2A	chr7:150945796-150946052	K562	blood:	n/a	chr7:150945886-150945901
13	CREB1	chr7:150945298-150946184	A549	lung:	n/a	n/a
14	MAX	chr7:150945235-150946610	SK-N-SH	brain:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
15	MAZ	chr7:150945513-150946044	K562	blood:	n/a	n/a
16	HDAC2	chr7:150945804-150946098	HepG2	liver:	n/a	chr7:150945977-150945986
17	UBTF	chr7:150945729-150946437	K562	blood:	n/a	n/a
18	GATA1	chr7:150945779-150946089	K562	blood:	n/a	chr7:150945877-150945893 chr7:150945976-150945985 chr7:150945976-150945986
19	MAX	chr7:150945512-150946750	ECC-1	luminal epithelium:	n/a	chr7:150946089-150946099 chr7:150946092-150946102 chr7:150946726-150946735
20	MAX	chr7:150945718-150946043	K562	blood:	n/a	n/a
21	TAF1	chr7:150945626-150946690	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr7:150945928-150946100	A549	lung:	n/a	n/a
23	YY1	chr7:150945524-150946163	K562	blood:	n/a	chr7:150946063-150946072 chr7:150946009-150946023 chr7:150946091-150946100 chr7:150946008-150946022 chr7:150945800-150945814 chr7:150945638-150945658 chr7:150945932-150945946
24	POLR2A	chr7:150945705-150946135	K562	blood:	n/a	n/a
25	POLR2A	chr7:150942456-150946649	IMR90	lung:	n/a	n/a
26	REST	chr7:150945783-150946056	K562	blood:	n/a	n/a
27	EGR1	chr7:150945414-150946047	K562	blood:	n/a	n/a
28	MAX	chr7:150944624-150946666	K562	blood:	n/a	chr7:150946089-150946099 chr7:150944835-150944842 chr7:150946092-150946102 chr7:150944833-150944844 chr7:150944834-150944843
29	ZBTB7A	chr7:150945823-150946067	HepG2	liver:	n/a	n/a
30	MAX	chr7:150945137-150946765	A549	lung:	n/a	chr7:150946089-150946099 chr7:150946092-150946102 chr7:150946726-150946735
31	RCOR1	chr7:150945591-150946073	K562	blood:	n/a	n/a
32	MAX	chr7:150945553-150946706	HepG2	liver:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
33	ZBTB7A	chr7:150945186-150946420	ECC-1	luminal epithelium:	n/a	chr7:150945786-150945794
34	EP300	chr7:150945430-150946830	ECC-1	luminal epithelium:	n/a	chr7:150946151-150946160 chr7:150946637-150946651 chr7:150946668-150946684
35	FOXA1	chr7:150945683-150946201	HepG2	liver:	n/a	n/a
36	HDAC2	chr7:150945432-150946135	K562	blood:	n/a	chr7:150945977-150945986
37	MEF2A	chr7:150945733-150946103	K562	blood:	n/a	chr7:150945886-150945901
38	ZBTB7A	chr7:150945073-150946282	K562	blood:	n/a	chr7:150945786-150945794
39	GATA1	chr7:150945713-150946066	PBDE	blood:	n/a	chr7:150945877-150945893 chr7:150945976-150945985 chr7:150945976-150945986
40	RAD21	chr7:150945881-150946053	K562	blood:	n/a	n/a
41	NFIC	chr7:150945988-150946950	ECC-1	luminal epithelium:	n/a	n/a
42	THAP1	chr7:150945869-150946337	K562	blood:	n/a	n/a
43	EP300	chr7:150945993-150946106	HepG2	liver:	n/a	n/a
44	REST	chr7:150945823-150946065	K562	blood:	n/a	n/a
45	ZBTB7A	chr7:150944351-150946539	K562	blood:	n/a	chr7:150945786-150945794
46	MAX	chr7:150945209-150946678	SK-N-SH	brain:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
47	MYC	chr7:150945700-150946033	K562	blood:	n/a	n/a
48	POLR2A	chr7:150945952-150946036	Hela-S3	cervix:	n/a	n/a
49	REST	chr7:150945731-150946031	ECC-1	luminal epithelium:	n/a	n/a
50	JUND	chr7:150945704-150946024	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150941406..150944514-chr7:150945051..150947075,3	MCF-7	breast:
2	chr7:150944159..150946342-chr7:150972887..150975150,2	MCF-7	breast:
3	chr7:150928143..150930111-chr7:150944656..150946614,2	MCF-7	breast:

Variant related genes	Relation type
SMARCD3	TF binding region
ENSG00000243018	TF binding region
ENSG00000033100	Chromatin interaction
ENSG00000082014	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
6	esv3374710	chr7:150944544-150947592	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3364561	chr7:150945169-150947267	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150944200-150946400	Active TSS	Right Ventricle	heart
2	chr7:150944400-150946200	Active TSS	HSMM	muscle
3	chr7:150944600-150946400	Active TSS	Brain Angular Gyrus	brain
4	chr7:150944600-150946400	Active TSS	Left Ventricle	heart
5	chr7:150944600-150946800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:150944600-150946800	Active TSS	Fetal Kidney	kidney
7	chr7:150944600-150947000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:150944600-150947000	Active TSS	Aorta	Aorta
9	chr7:150944600-150947000	Active TSS	Psoas Muscle	Psoas
10	chr7:150944800-150946400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:150944800-150946400	Active TSS	Fetal Lung	lung
12	chr7:150944800-150947000	Active TSS	Right Atrium	heart
13	chr7:150945000-150946200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:150945000-150946200	Active TSS	Pancreas	Pancrea
15	chr7:150945000-150946400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:150945000-150946400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:150945000-150946400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:150945000-150946400	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr7:150945000-150946400	Active TSS	Ovary	ovary
20	chr7:150945000-150946400	Active TSS	NHDF-Ad	bronchial
21	chr7:150945000-150946600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr7:150945000-150946600	Active TSS	Brain Substantia Nigra	brain
23	chr7:150945000-150946800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr7:150945000-150946800	Flanking Bivalent TSS/Enh	Thymus	Thymus
25	chr7:150945000-150947200	Active TSS	HSMMtube	muscle
26	chr7:150945200-150946200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:150945200-150946200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:150945200-150946200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:150945200-150946200	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
30	chr7:150945200-150946200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr7:150945200-150946200	Active TSS	Muscle Satellite Cultured Cells	--
32	chr7:150945200-150946200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:150945200-150946200	Active TSS	Esophagus	oesophagus
34	chr7:150945200-150946200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr7:150945200-150946200	Active TSS	Lung	lung
36	chr7:150945200-150946200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr7:150945200-150946200	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr7:150945200-150946400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:150945200-150946400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:150945200-150946400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr7:150945200-150946400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr7:150945200-150946400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr7:150945200-150946400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:150945200-150946400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr7:150945200-150946400	Active TSS	Primary T cells from cord blood	blood
46	chr7:150945200-150946400	Active TSS	Fetal Brain Female	brain
47	chr7:150945200-150946400	Active TSS	Fetal Intestine Large	intestine
48	chr7:150945200-150946400	Active TSS	Fetal Intestine Small	intestine
49	chr7:150945200-150946400	Active TSS	Fetal Muscle Leg	muscle
50	chr7:150945200-150946400	Active TSS	Fetal Stomach	stomach

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