Variant report

Variant	rs12670882
Chromosome Location	chr7:149416023-149416024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr7:149415931-149416626	HEK293	kidney:	n/a	n/a
2	ELF1	chr7:149415980-149416397	K562	blood:	n/a	n/a
3	NR2F2	chr7:149415570-149417593	K562	blood:	n/a	n/a
4	TBP	chr7:149415995-149416820	K562	blood:	n/a	n/a
5	POLR2A	chr7:149415992-149417486	K562	blood:	n/a	n/a
6	FOS	chr7:149416000-149416527	HUVEC	blood vessel:	n/a	chr7:149416325-149416336
7	ARID3A	chr7:149416022-149416598	K562	blood:	n/a	n/a
8	TCF12	chr7:149415939-149416638	SK-N-SH	brain:	n/a	n/a
9	ZC3H11A	chr7:149415975-149417426	K562	blood:	n/a	n/a
10	TRIM28	chr7:149415948-149416525	K562	blood:	n/a	n/a
11	MAFK	chr7:149416020-149416632	K562	blood:	n/a	n/a
12	POLR2A	chr7:149415881-149417807	K562	blood:	n/a	n/a
13	USF2	chr7:149416007-149416481	K562	blood:	n/a	n/a
14	JUN	chr7:149415998-149416603	K562	blood:	n/a	chr7:149416366-149416379
15	POLR2A	chr7:149415959-149416672	K562	blood:	n/a	n/a
16	JUN	chr7:149416009-149416724	K562	blood:	n/a	chr7:149416366-149416379
17	KAP1	chr7:149415947-149416726	U2OS	brain:	n/a	n/a
18	UBTF	chr7:149415933-149417579	K562	blood:	n/a	n/a
19	ZNF274	chr7:149415980-149416695	K562	blood:	n/a	n/a
20	USF1	chr7:149416005-149416477	K562	blood:	n/a	n/a
21	ZMIZ1	chr7:149416009-149417376	K562	blood:	n/a	n/a
22	KAP1	chr7:149415894-149416858	K562	blood:	n/a	n/a
23	HCFC1	chr7:149415987-149417292	K562	blood:	n/a	n/a
24	GATA2	chr7:149415991-149416523	K562	blood:	n/a	n/a
25	FOSL2	chr7:149415985-149416616	SK-N-SH	brain:	n/a	n/a
26	TAL1	chr7:149415961-149417606	K562	blood:	n/a	chr7:149415996-149416004
27	STAT5A	chr7:149416018-149416530	K562	blood:	n/a	n/a
28	NR2F2	chr7:149415841-149416663	K562	blood:	n/a	n/a
29	STAT5A	chr7:149415974-149416656	K562	blood:	n/a	n/a
30	REST	chr7:149415936-149416459	K562	blood:	n/a	n/a
31	SMARCB1	chr7:149415999-149417725	K562	blood:	n/a	n/a
32	CEBPB	chr7:149415827-149416676	K562	blood:	n/a	n/a
33	UBTF	chr7:149416011-149416548	K562	blood:	n/a	n/a
34	SETDB1	chr7:149415935-149416545	U2OS	brain:	n/a	n/a
35	FOSL1	chr7:149416000-149416544	K562	blood:	n/a	n/a
36	SPI1	chr7:149415997-149416166	K562	blood:	n/a	n/a
37	SMARCA4	chr7:149415962-149417669	K562	blood:	n/a	n/a
38	CBX3	chr7:149415539-149417509	K562	blood:	n/a	n/a
39	ZNF143	chr7:149415991-149416675	K562	blood:	n/a	n/a
40	JUND	chr7:149415891-149417501	K562	blood:	n/a	chr7:149416325-149416336
41	TRIM28	chr7:149415760-149417459	K562	blood:	n/a	chr7:149417398-149417406
42	JUND	chr7:149415970-149416868	SK-N-SH	brain:	n/a	chr7:149416325-149416336
43	POLR2A	chr7:149415946-149416870	K562	blood:	n/a	n/a
44	JUN	chr7:149415850-149417585	K562	blood:	n/a	chr7:149416366-149416379
45	EGR1	chr7:149416004-149416424	K562	blood:	n/a	n/a
46	RCOR1	chr7:149416007-149417481	K562	blood:	n/a	n/a
47	TBL1XR1	chr7:149415906-149417424	K562	blood:	n/a	n/a
48	GATA3	chr7:149415984-149416651	SK-N-SH	brain:	n/a	n/a
49	PML	chr7:149415967-149416700	K562	blood:	n/a	n/a
50	CBX3	chr7:149415571-149416611	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:149413328..149416314-chr7:149417568..149419723,2	MCF-7	breast:
2	chr7:149415554..149419677-chr7:149423548..149428331,6	K562	blood:

No data

Variant related genes	Relation type
KRBA1	TF binding region
ENSG00000133619	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10231875	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10240931	0.99[EUR][1000 genomes]
rs10256826	0.95[EUR][1000 genomes]
rs10256935	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10258658	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10262457	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10952835	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11979707	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171280	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28647767	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55727837	0.92[EUR][1000 genomes]
rs56226490	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56265968	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60047316	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60647533	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66588543	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67491931	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67647638	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67657627	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68129719	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68139633	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73479712	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7791608	0.96[EUR][1000 genomes]
rs7804205	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7808442	0.96[EUR][1000 genomes]
rs867152	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885651	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs885652	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021849	chr7:149230929-149422239	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats 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	40 gene(s)	inside rSNPs	diseases
6	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv465199	chr7:149398065-149462621	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv608979	chr7:149398065-149462621	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr7:149412800-149416800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr7:149412800-149417000	Weak transcription	Liver	Liver
3	chr7:149412800-149417400	Weak transcription	Fetal Intestine Large	intestine
4	chr7:149412800-149418000	Weak transcription	Aorta	Aorta
5	chr7:149412800-149418600	Weak transcription	Primary B cells from cord blood	blood
6	chr7:149412800-149421400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:149412800-149438800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:149413000-149416200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:149413000-149416600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:149413000-149417200	Weak transcription	HSMMtube	muscle
11	chr7:149413000-149417400	Weak transcription	Thymus	Thymus
12	chr7:149413000-149418000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:149413000-149418000	Weak transcription	Small Intestine	intestine
14	chr7:149413000-149418200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:149413000-149418200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr7:149413000-149424000	Weak transcription	Fetal Kidney	kidney
17	chr7:149413000-149433200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:149413200-149416400	Weak transcription	Osteobl	bone
19	chr7:149413200-149417800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:149413200-149417800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:149413200-149418000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:149413200-149418000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:149413200-149418400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:149413200-149421800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:149413200-149426200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:149413200-149432000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:149413200-149433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:149413400-149416200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:149413400-149416400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:149413400-149417000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:149413400-149417000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:149413400-149417000	Weak transcription	Gastric	stomach
33	chr7:149413400-149417400	Weak transcription	Adipose Nuclei	Adipose
34	chr7:149413400-149417600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:149413400-149417800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:149413400-149417800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:149413400-149418000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr7:149413400-149418200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:149413400-149418200	Weak transcription	Fetal Thymus	thymus
40	chr7:149413400-149418400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:149413400-149418600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:149413400-149419200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:149413400-149423000	Weak transcription	Colonic Mucosa	Colon
44	chr7:149413400-149424600	Weak transcription	HUVEC	blood vessel
45	chr7:149413400-149433400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr7:149413600-149416400	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:149413600-149416400	Weak transcription	Pancreas	Pancrea
48	chr7:149413600-149416600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:149413600-149416600	Weak transcription	Spleen	Spleen
50	chr7:149413600-149416800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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