Variant report

Variant	rs73678524
Chromosome Location	chr7:12725238-12725239
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	RAD21	chr7:12725184-12725468	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr7:12725219-12725401	HepG2	liver:	n/a	n/a
3	CTCF	chr7:12725220-12725370	HCM	heart:	n/a	n/a
4	CTCF	chr7:12725180-12725330	HAc	cerebellar:	n/a	n/a
5	CTCF	chr7:12725160-12725310	GM12868	blood:	n/a	n/a
6	CTCF	chr7:12725178-12725430	H1-hESC	embryonic stem cell:	n/a	n/a
7	SPI1	chr7:12725196-12725553	HL-60	blood:	n/a	chr7:12725204-12725217
8	CTCF	chr7:12725027-12725642	MCF-7	breast:	n/a	n/a
9	RAD21	chr7:12725087-12725553	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr7:12725133-12725510	A549	lung:	n/a	n/a
11	YY1	chr7:12725137-12725467	HCT-116	colon:	n/a	chr7:12725167-12725178 chr7:12725193-12725204
12	YY1	chr7:12725087-12725490	A549	lung:	n/a	chr7:12725167-12725178 chr7:12725193-12725204
13	CTCF	chr7:12725200-12725423	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr7:12725180-12725330	GM12873	blood:	n/a	n/a
15	RAD21	chr7:12725021-12725622	H1-hESC	embryonic stem cell:	n/a	n/a
16	ELF1	chr7:12725121-12725567	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:12725200-12725350	HepG2	liver:	n/a	n/a
18	CTCF	chr7:12725099-12725631	SK-N-SH	brain:	n/a	n/a
19	ELF1	chr7:12725132-12725498	A549	lung:	n/a	n/a
20	CTCF	chr7:12725177-12725465	A549	lung:	n/a	n/a
21	RAD21	chr7:12725209-12725497	HepG2	liver:	n/a	n/a
22	CTCF	chr7:12725201-12725507	A549	lung:	n/a	n/a
23	CTCF	chr7:12725220-12725370	NHLF	lung:	n/a	n/a
24	REST	chr7:12725222-12725550	A549	lung:	n/a	n/a
25	CTCF	chr7:12725160-12725310	GM12865	blood:	n/a	n/a
26	CTCF	chr7:12725174-12725565	A549	lung:	n/a	n/a
27	CTCF	chr7:12725182-12725455	K562	blood:	n/a	n/a
28	CTCF	chr7:12725202-12725406	Spleen_OC	spleen:	n/a	n/a
29	RAD21	chr7:12725136-12725504	HepG2	liver:	n/a	n/a
30	CTCF	chr7:12725172-12725480	MCF-7	breast:	n/a	n/a
31	CTCF	chr7:12725236-12725399	GM19238	blood:	n/a	n/a
32	TCF12	chr7:12724889-12727779	A549	lung:	n/a	chr7:12726232-12726242
33	CTCF	chr7:12725192-12725419	MCF-7	breast:	n/a	n/a
34	SPI1	chr7:12725186-12725594	HL-60	blood:	n/a	chr7:12725204-12725217
35	SP1	chr7:12725030-12725630	A549	lung:	n/a	chr7:12725208-12725215
36	USF1	chr7:12725131-12725582	A549	lung:	n/a	n/a
37	CTCF	chr7:12725182-12725459	Fibrobl	skin:	n/a	n/a
38	CTCF	chr7:12725207-12725438	Gliobla	brain:	n/a	n/a
39	CTCF	chr7:12725220-12725370	GM12873	blood:	n/a	n/a
40	BHLHE40	chr7:12725200-12726711	A549	lung:	n/a	chr7:12726298-12726314 chr7:12726431-12726447
41	CTCF	chr7:12725146-12725498	IMR90	lung:	n/a	n/a
42	RAD21	chr7:12725101-12725521	IMR90	lung:	n/a	n/a
43	RAD21	chr7:12725110-12725545	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr7:12725212-12725433	ProgFib	skin:	n/a	n/a
45	TCF7L2	chr7:12725225-12725477	PANC-1	pancreas:	n/a	n/a
46	CTCF	chr7:12724539-12727741	A549	lung:	n/a	n/a
47	CTCF	chr7:12725220-12725370	GM12865	blood:	n/a	n/a
48	RAD21	chr7:12725169-12725450	K562	blood:	n/a	n/a
49	CTCF	chr7:12725090-12725616	MCF-7	breast:	n/a	n/a
50	CTCF	chr7:12725183-12725467	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12441983..12444239-chr7:12724759..12726454,2	K562	blood:
2	chr7:12724061..12726495-chr7:12959611..12962564,2	K562	blood:

Variant related genes	Relation type
ENSG00000271253	TF binding region
ARL4A	TF binding region
ENSG00000230879	Chromatin interaction
ENSG00000146530	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73678521	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678522	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678525	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12721600-12726000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:12722200-12726000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:12723800-12725400	Enhancers	Placenta	Placenta
4	chr7:12723800-12725400	Weak transcription	Osteobl	bone
5	chr7:12723800-12725800	Weak transcription	HepG2	liver
6	chr7:12724000-12725400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:12724000-12725400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:12724000-12725400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:12724000-12725400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:12724000-12726000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:12724000-12726000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:12724200-12725400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:12724200-12725600	Weak transcription	Hela-S3	cervix
14	chr7:12724200-12726000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:12724400-12725800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:12724600-12726000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:12724600-12726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:12724800-12725400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:12724800-12725800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:12724800-12725800	Enhancers	Primary B cells from cord blood	blood
21	chr7:12724800-12725800	Enhancers	Primary B cells from peripheral blood	blood
22	chr7:12725000-12725400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr7:12725200-12725400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:12725200-12725400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:12725200-12725400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:12725200-12725400	Enhancers	Adipose Nuclei	Adipose
27	chr7:12725200-12725600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr7:12725200-12725600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:12725200-12725600	Active TSS	A549	lung
30	chr7:12725200-12725800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr7:12725200-12725800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:12725200-12725800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:12725200-12725800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr7:12725200-12725800	Enhancers	K562	blood
35	chr7:12725200-12726000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr7:12725200-12727600	Active TSS	Brain Substantia Nigra	brain
37	chr7:12725200-12730600	Active TSS	Brain Inferior Temporal Lobe	brain

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