Variant report

Variant	rs73714373
Chromosome Location	chr7:116651844-116651845
allele	A/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	RCOR1	chr7:116651554-116652369	GM12878	blood:	n/a	n/a
2	TAF1	chr7:116651734-116652190	GM12878	blood:	n/a	n/a
3	MEF2A	chr7:116651568-116652427	GM12878	blood:	n/a	n/a
4	RELA	chr7:116650159-116652411	GM19193	blood:	n/a	chr7:116650710-116650719 chr7:116650710-116650719
5	IKZF1	chr7:116650027-116652497	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:116650803-116652280	GM12891	blood:	n/a	n/a
7	POLR2A	chr7:116650787-116652314	GM12892	blood:	n/a	n/a
8	SMC3	chr7:116651778-116653247	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:116649747-116652373	GM12892	blood:	n/a	n/a
10	TBL1XR1	chr7:116650183-116652798	GM12878	blood:	n/a	n/a
11	MTA3	chr7:116649866-116652811	GM12878	blood:	n/a	n/a
12	EP300	chr7:116651634-116652336	GM12878	blood:	n/a	n/a
13	SPI1	chr7:116651788-116652278	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:116649779-116652228	GM12892	blood:	n/a	n/a
15	POLR2A	chr7:116650810-116652183	GM12891	blood:	n/a	n/a
16	SRF	chr7:116651843-116652222	GM12878	blood:	n/a	chr7:116652094-116652108 chr7:116652093-116652107 chr7:116652091-116652108 chr7:116652097-116652108 chr7:116652096-116652109 chr7:116652093-116652111
17	RELA	chr7:116649862-116652517	GM12891	blood:	n/a	chr7:116650710-116650719 chr7:116650710-116650719
18	PAX5	chr7:116651508-116652311	GM12878	blood:	n/a	chr7:116652039-116652048
19	EBF1	chr7:116651595-116652266	GM12878	blood:	n/a	n/a
20	ARID3A	chr7:116651749-116652155	K562	blood:	n/a	n/a
21	SPI1	chr7:116651389-116652525	GM12878	blood:	n/a	chr7:116651398-116651411
22	POLR2A	chr7:116649746-116652291	GM12878	blood:	n/a	n/a
23	MAZ	chr7:116651836-116652163	K562	blood:	n/a	n/a
24	NFATC1	chr7:116651486-116652474	GM12878	blood:	n/a	n/a
25	STAT5A	chr7:116650035-116652410	GM12878	blood:	n/a	chr7:116650166-116650180
26	RELA	chr7:116650206-116652978	GM18505	blood:	n/a	chr7:116650710-116650719 chr7:116650710-116650719
27	RUNX3	chr7:116650135-116652628	GM12878	blood:	n/a	n/a
28	BHLHE40	chr7:116651418-116652496	GM12878	blood:	n/a	n/a
29	BCLAF1	chr7:116651436-116652694	GM12878	blood:	n/a	chr7:116652039-116652048
30	EP300	chr7:116650268-116652582	GM12878	blood:	n/a	chr7:116652338-116652352 chr7:116650970-116650984 chr7:116652339-116652353 chr7:116650529-116650538
31	POLR2A	chr7:116651549-116654196	K562	blood:	n/a	n/a
32	SP1	chr7:116651573-116652337	GM12878	blood:	n/a	n/a
33	STAT1	chr7:116651742-116652288	GM12878	blood:	n/a	n/a
34	MTA3	chr7:116649796-116652623	GM12878	blood:	n/a	n/a
35	POLR2A	chr7:116649779-116652999	GM12878	blood:	n/a	n/a
36	ZNF143	chr7:116651726-116652422	GM12878	blood:	n/a	n/a
37	NFIC	chr7:116649213-116652984	GM12878	blood:	n/a	n/a
38	BCL3	chr7:116651669-116652362	GM12878	blood:	n/a	chr7:116652039-116652048
39	RUNX3	chr7:116649718-116652510	GM12878	blood:	n/a	n/a
40	NFIC	chr7:116648985-116653070	GM12878	blood:	n/a	n/a
41	EGR1	chr7:116651706-116652076	K562	blood:	n/a	n/a
42	TBP	chr7:116651450-116652579	GM12878	blood:	n/a	chr7:116652095-116652106
43	FOXM1	chr7:116651486-116652621	GM12878	blood:	n/a	n/a
44	FOXM1	chr7:116650189-116653251	GM12878	blood:	n/a	n/a
45	POLR2A	chr7:116649815-116652847	GM12878	blood:	n/a	n/a
46	PML	chr7:116649961-116652398	GM12878	blood:	n/a	n/a
47	CUX1	chr7:116651463-116652570	GM12878	blood:	n/a	n/a
48	POLR2A	chr7:116649759-116653016	GM12892	blood:	n/a	n/a
49	BATF	chr7:116650312-116652479	GM12878	blood:	n/a	n/a
50	SPI1	chr7:116651776-116652288	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:116610596-116619447..7:116651084-116657331	H1-hESC	embryonic stem cell:	embryo
2	chr7:116589691..116599368-chr7:116647062..116658963,30	K562	blood:
3	7:116651084-116657331..7:117341506-117356953	Hela-S3	cervix:
4	chr7:116591034..116595853-chr7:116650615..116657201,10	K562	blood:
5	chr7:116639159..116641684-chr7:116649141..116652754,4	K562	blood:

Variant related genes	Relation type
ST7	TF binding region
ENSG00000214188	Chromatin interaction
ENSG00000213050	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000001626	Chromatin interaction
ENSG00000227199	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73714359	1.00[AFR][1000 genomes]
rs73714363	1.00[AFR][1000 genomes]
rs73714375	1.00[AFR][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	nsv527321	chr7:116635048-116660803	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116635600-116654800	Weak transcription	Psoas Muscle	Psoas
2	chr7:116635800-116660200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:116639800-116660000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:116645600-116652800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr7:116645800-116654200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:116646000-116653400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:116646200-116652800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr7:116646400-116653600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr7:116646400-116654000	Weak transcription	NHLF	lung
10	chr7:116646400-116654400	Weak transcription	NHDF-Ad	bronchial
11	chr7:116646600-116652200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:116646600-116653400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:116647000-116652600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:116647400-116652000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:116647400-116652200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:116647600-116652000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:116647600-116652400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:116647600-116653200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr7:116648000-116654400	Weak transcription	Fetal Lung	lung
20	chr7:116648600-116652000	Enhancers	Osteobl	bone
21	chr7:116648600-116652200	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:116649000-116652200	Enhancers	Colon Smooth Muscle	Colon
23	chr7:116649000-116652800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr7:116649000-116652800	Flanking Active TSS	GM12878-XiMat	blood
25	chr7:116649200-116652000	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:116649400-116654400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:116649600-116654000	Enhancers	K562	blood
28	chr7:116649600-116654400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:116649800-116652800	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr7:116650000-116652200	Enhancers	Duodenum Mucosa	Duodenum
31	chr7:116650200-116652200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr7:116650200-116652600	Enhancers	Fetal Heart	heart
33	chr7:116650200-116654400	Weak transcription	Brain Anterior Caudate	brain
34	chr7:116650400-116652000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr7:116650400-116652000	Enhancers	Right Atrium	heart
36	chr7:116650400-116652000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr7:116650400-116652000	Weak transcription	A549	lung
38	chr7:116650600-116652000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr7:116650600-116654400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:116650600-116654400	Weak transcription	NH-A	brain
41	chr7:116650600-116655400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:116650800-116652000	Enhancers	Aorta	Aorta
43	chr7:116650800-116652200	Enhancers	Primary T cells from cord blood	blood
44	chr7:116650800-116659600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr7:116651000-116654200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:116651000-116654200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:116651000-116654200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:116651000-116654400	Weak transcription	NHEK	skin
49	chr7:116651000-116654600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:116651200-116652000	Enhancers	Duodenum Smooth Muscle	Duodenum

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