Variant report

Variant	rs73051913
Chromosome Location	chr7:7809860-7809861
allele	G/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	RCOR1	chr7:7809217-7810548	IMR90	lung:	n/a	n/a
2	MAZ	chr7:7809704-7810522	IMR90	lung:	n/a	n/a
3	EP300	chr7:7807784-7810456	SK-N-SH	brain:	n/a	chr7:7808682-7808696 chr7:7807879-7807893
4	CTCF	chr7:7809800-7809950	HCPEpiC	choroid plexus:	n/a	n/a
5	CEBPB	chr7:7809823-7810252	IMR90	lung:	n/a	chr7:7810039-7810052
6	GATA2	chr7:7808554-7810000	SH-SY5Y	brain:	n/a	chr7:7809828-7809836 chr7:7809642-7809653 chr7:7808841-7808854

No.	Distal block	Cell Line	Cell type
1	chr7:7798107..7800379-chr7:7808949..7810865,2	K562	blood:
2	chr7:7801447..7806278-chr7:7806624..7810119,5	K562	blood:
3	chr7:7804210..7807179-chr7:7808630..7811509,2	MCF-7	breast:
4	chr7:7809766..7812689-chr7:8007861..8010451,3	MCF-7	breast:

Variant related genes	Relation type
RPA3-AS1	TF binding region
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11771231	0.84[ASN][1000 genomes]
rs73051921	0.84[ASN][1000 genomes]
rs73051928	0.84[ASN][1000 genomes]
rs73051931	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv887489	chr7:7770203-7913311	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1027770	chr7:7797431-7957507	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv538722	chr7:7797431-7957507	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv887490	chr7:7801684-7908970	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7802400-7812000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:7802400-7812000	Weak transcription	Brain Substantia Nigra	brain
3	chr7:7802400-7812200	Weak transcription	Small Intestine	intestine
4	chr7:7802400-7829800	Weak transcription	Left Ventricle	heart
5	chr7:7802400-7841400	Weak transcription	Ovary	ovary
6	chr7:7802600-7811200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:7802600-7811800	Weak transcription	Brain Anterior Caudate	brain
8	chr7:7802600-7812200	Weak transcription	Adipose Nuclei	Adipose
9	chr7:7802600-7836600	Weak transcription	Aorta	Aorta
10	chr7:7804600-7811800	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:7804800-7811600	Weak transcription	Primary B cells from cord blood	blood
12	chr7:7805000-7811000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:7805000-7811000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:7805400-7810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:7805400-7810800	Weak transcription	Thymus	Thymus
16	chr7:7805400-7810800	Weak transcription	HMEC	breast
17	chr7:7805400-7811200	Weak transcription	Fetal Thymus	thymus
18	chr7:7805400-7811800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:7805400-7854400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr7:7805600-7810800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:7805800-7810800	Weak transcription	Primary T cells from cord blood	blood
22	chr7:7805800-7810800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:7805800-7810800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:7805800-7811000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:7805800-7811000	Weak transcription	NHEK	skin
26	chr7:7805800-7811200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:7805800-7811600	Weak transcription	GM12878-XiMat	blood
28	chr7:7807200-7810200	Enhancers	Fetal Stomach	stomach
29	chr7:7807200-7810800	Enhancers	Brain Germinal Matrix	brain
30	chr7:7807600-7819000	Weak transcription	Stomach Mucosa	stomach
31	chr7:7807800-7810000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:7808000-7812000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:7808000-7813600	Weak transcription	Hela-S3	cervix
34	chr7:7808200-7811400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:7808400-7810800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:7808400-7811000	Weak transcription	HSMM	muscle
37	chr7:7808800-7811800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:7808800-7811800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:7808800-7811800	Weak transcription	HSMMtube	muscle
40	chr7:7809000-7811800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:7809200-7810000	Enhancers	Gastric	stomach
42	chr7:7809200-7811800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:7809400-7810000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:7809400-7810200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:7809400-7810200	Enhancers	Right Atrium	heart
46	chr7:7809400-7811200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:7809400-7812000	Enhancers	Osteobl	bone
48	chr7:7809400-7812200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:7809400-7813400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:7809600-7810000	Active TSS	Stomach Smooth Muscle	stomach

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