Variant report

Variant	rs2030682
Chromosome Location	chr7:150126324-150126325
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr7:150125712-150126330	HL-60	blood:	n/a	chr7:150126015-150126028
2	MAZ	chr7:150125509-150126552	IMR90	lung:	n/a	n/a
3	MXI1	chr7:150125699-150126462	IMR90	lung:	n/a	n/a
4	TCF12	chr7:150125761-150126361	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr7:150126280-150126430	AG04450	lung:	n/a	n/a
6	TCF12	chr7:150125716-150126353	A549	lung:	n/a	n/a
7	TCF12	chr7:150125565-150126401	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr7:150125569-150126366	SK-N-SH	brain:	n/a	n/a
9	RCOR1	chr7:150125544-150126398	IMR90	lung:	n/a	n/a
10	CTCF	chr7:150126240-150126390	HAc	cerebellar:	n/a	n/a
11	CTCF	chr7:150126280-150126430	AG09319	gingival:	n/a	n/a
12	EP300	chr7:150125606-150126339	SK-N-SH	brain:	n/a	n/a
13	TEAD4	chr7:150125787-150126520	ECC-1	luminal epithelium:	n/a	chr7:150126254-150126263

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150125696..150128061-chr7:150128345..150131793,4	K562	blood:
2	chr7:150125990..150127951-chr7:150128739..150131315,4	K562	blood:
3	chr7:150120416..150122840-chr7:150125957..150128755,2	K562	blood:
4	chr7:150003788..150006557-chr7:150126189..150128283,2	K562	blood:
5	chr7:150101612..150104184-chr7:150124782..150128046,4	K562	blood:
6	chr7:150126141..150128325-chr7:150150954..150153217,2	K562	blood:
7	chr7:150124983..150127260-chr7:150127633..150130251,3	MCF-7	breast:
8	chr7:150014370..150017313-chr7:150124547..150126790,2	K562	blood:
9	chr7:150016741..150020223-chr7:150126057..150129165,3	K562	blood:

No data

Variant related genes	Relation type
LINC00996	TF binding region
ENSG00000196456	Chromatin interaction
ENSG00000242258	Chromatin interaction
ENSG00000127399	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10952256	1.00[ASN][1000 genomes]
rs12333724	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12703063	1.00[ASN][1000 genomes]
rs1524335	1.00[ASN][1000 genomes]
rs1880315	1.00[ASN][1000 genomes]
rs1996981	1.00[ASN][1000 genomes]
rs2030681	1.00[ASN][1000 genomes]
rs2888634	1.00[ASN][1000 genomes]
rs4725899	1.00[ASN][1000 genomes]
rs6464064	1.00[EUR][1000 genomes]
rs6944824	1.00[ASN][1000 genomes]
rs6960284	1.00[ASN][1000 genomes]
rs6960822	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962146	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150104400-150131600	Weak transcription	Right Atrium	heart
2	chr7:150110200-150142200	Weak transcription	Gastric	stomach
3	chr7:150124200-150126400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:150124200-150126800	Enhancers	Fetal Thymus	thymus
5	chr7:150124400-150126600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr7:150124400-150126600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:150124400-150126600	Enhancers	Primary hematopoietic stem cells	blood
8	chr7:150124400-150126800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:150124400-150126800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:150124400-150126800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:150124400-150126800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:150124400-150126800	Enhancers	Thymus	Thymus
13	chr7:150124600-150126600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:150124600-150127800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:150124600-150128600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:150124800-150126600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:150124800-150126600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:150124800-150127800	Enhancers	Spleen	Spleen
19	chr7:150125000-150126600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:150125000-150126600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr7:150125000-150127200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:150125200-150126400	Enhancers	Adipose Nuclei	Adipose
23	chr7:150125200-150126600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:150125200-150126600	Enhancers	Primary B cells from cord blood	blood
25	chr7:150125200-150126600	Enhancers	Placenta	Placenta
26	chr7:150125200-150126600	Enhancers	Fetal Stomach	stomach
27	chr7:150125400-150126400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr7:150125400-150126800	Enhancers	Fetal Muscle Trunk	muscle
29	chr7:150125600-150126400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:150125600-150126400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr7:150125600-150126400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:150125600-150126400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr7:150125600-150126400	Enhancers	HMEC	breast
34	chr7:150125600-150126400	Enhancers	Osteobl	bone
35	chr7:150125600-150126600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:150125600-150126600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:150125600-150126600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr7:150125600-150126600	Enhancers	Fetal Intestine Small	intestine
39	chr7:150125600-150126600	Enhancers	Fetal Muscle Leg	muscle
40	chr7:150125600-150126600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr7:150125600-150126600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
42	chr7:150125600-150126800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:150125600-150126800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:150125600-150126800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:150125600-150126800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:150125600-150126800	Enhancers	NH-A	brain
47	chr7:150125600-150127000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:150125600-150127000	Enhancers	Rectal Smooth Muscle	rectum
49	chr7:150125600-150127400	Enhancers	HSMMtube	muscle
50	chr7:150125800-150126400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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