Variant report

Variant	rs2070601
Chromosome Location	chr7:26232583-26232584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:26231477-26237614	GM12878	blood:	n/a	n/a
2	WRNIP1	chr7:26232576-26232724	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:26221696-26237480	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:26225813-26242266	Hela-S3	cervix:	n/a	n/a
5	CEBPD	chr7:26232055-26232747	K562	blood:	n/a	n/a
6	POLR2A	chr7:26231761-26232795	K562	blood:	n/a	n/a
7	POLR2A	chr7:26231925-26232749	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr7:26231609-26232846	GM12891	blood:	n/a	n/a
9	POLR2A	chr7:26231587-26232629	PBDE	blood:	n/a	n/a
10	POLR2A	chr7:26231996-26233041	K562	blood:	n/a	n/a
11	POLR2A	chr7:26231542-26235280	GM12892	blood:	n/a	n/a
12	POLR2A	chr7:26225899-26235179	K562	blood:	n/a	n/a
13	ATF2	chr7:26232570-26232987	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:26232019-26232844	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr7:26231589-26232820	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr7:26231653-26232859	GM12891	blood:	n/a	n/a
17	POLR2A	chr7:26231544-26237489	GM12892	blood:	n/a	n/a
18	CHD1	chr7:26232445-26232969	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:26232047-26232825	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr7:26232537-26232690	GM12878	blood:	n/a	n/a
21	MXI1	chr7:26232123-26232779	GM12878	blood:	n/a	n/a
22	CCNT2	chr7:26232273-26232656	K562	blood:	n/a	n/a
23	POLR2A	chr7:26225911-26234500	K562	blood:	n/a	n/a
24	POLR2A	chr7:26231584-26234693	GM12892	blood:	n/a	n/a
25	POLR2A	chr7:26217417-26242495	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:26231562-26232868	GM12892	blood:	n/a	n/a
27	POLR2A	chr7:26229948-26232886	GM19099	blood:	n/a	n/a
28	POLR2A	chr7:26231393-26233862	U87	brain:	n/a	n/a
29	POLR2A	chr7:26229791-26237535	GM12878	blood:	n/a	n/a
30	CHD2	chr7:26232399-26232847	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:26232411-26234652	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr7:26231485-26232984	GM12891	blood:	n/a	n/a
33	POLR2A	chr7:26231560-26234757	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr7:26229794-26233794	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr7:26225840-26234567	HepG2	liver:	n/a	n/a
36	POLR2A	chr7:26219147-26241658	K562	blood:	n/a	n/a
37	POLR2A	chr7:26222589-26243037	K562	blood:	n/a	n/a
38	POLR2A	chr7:26229811-26234632	PANC-1	pancreas:	n/a	n/a
39	PML	chr7:26231663-26232970	K562	blood:	n/a	n/a
40	POLR2A	chr7:26231490-26235276	K562	blood:	n/a	n/a
41	POLR2A	chr7:26221760-26237544	A549	lung:	n/a	n/a
42	POLR2A	chr7:26225919-26237367	K562	blood:	n/a	n/a
43	POLR2A	chr7:26232449-26232715	HCT-116	colon:	n/a	n/a
44	HEY1	chr7:26231978-26232961	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:26230952-26235352	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr7:26217906-26237432	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr7:26231393-26233794	U87	brain:	n/a	n/a
48	POLR2A	chr7:26231519-26232729	K562	blood:	n/a	n/a
49	BCL3	chr7:26231433-26232944	K562	blood:	n/a	n/a
50	POLR2A	chr7:26221714-26237502	GM18505	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:26224902..26232884-chr7:26322008..26332976,29	K562	blood:
2	chr7:26187891..26202612-chr7:26221953..26234536,42	K562	blood:
3	chr11:62608697..62609511-chr7:26232381..26232967,2	NB4	blood:
4	chr7:25932201..25934471-chr7:26231808..26233877,2	K562	blood:
5	chr7:26190297..26193509-chr7:26229457..26232588,3	MCF-7	breast:
6	chr7:26117592..26119094-chr7:26231606..26233177,2	MCF-7	breast:
7	chr18:11981555..11982158-chr7:26232311..26233029,2	Hela-S3	cervix:
8	chr7:26187762..26202698-chr7:26218693..26233402,42	K562	blood:
9	chr7:26224902..26232884-chr7:26322942..26334107,28	K562	blood:

No data

Variant related genes	Relation type
HNRNPA2B1	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000086300	Chromatin interaction
ENSG00000141401	Chromatin interaction
ENSG00000050344	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10499573	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10951126	0.94[EUR][1000 genomes]
rs10951127	0.94[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes]
rs11978377	0.94[EUR][1000 genomes]
rs11979154	0.94[EUR][1000 genomes]
rs12533620	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12537093	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12538280	1.00[MEX][hapmap]
rs12539124	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1864241	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237329	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237330	0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2237332	0.94[EUR][1000 genomes]
rs2237333	1.00[ASW][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2237334	0.94[EUR][1000 genomes]
rs41374744	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4273	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58438239	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58914793	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6960012	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9638832	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9639531	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26217400-26234800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:26218200-26236000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:26219000-26233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:26220600-26234200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:26222200-26233200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:26223200-26233200	Strong transcription	Fetal Thymus	thymus
7	chr7:26223800-26233200	Strong transcription	HMEC	breast
8	chr7:26224000-26235000	Strong transcription	NH-A	brain
9	chr7:26224200-26232600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:26224200-26232800	Weak transcription	Fetal Stomach	stomach
11	chr7:26224200-26235000	Strong transcription	NHEK	skin
12	chr7:26224400-26234400	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr7:26224800-26236000	Strong transcription	HSMM	muscle
14	chr7:26224800-26236800	Strong transcription	HSMMtube	muscle
15	chr7:26225800-26234800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:26226000-26233200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:26226000-26233400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:26226000-26234800	Strong transcription	Thymus	Thymus
19	chr7:26226000-26235000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:26226400-26236200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:26227000-26233000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:26227000-26234000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:26227000-26234200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr7:26227000-26234800	Strong transcription	NHLF	lung
25	chr7:26227000-26235600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:26227200-26232600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:26227400-26233000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:26227400-26233400	Strong transcription	Hela-S3	cervix
29	chr7:26227400-26234800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:26227400-26236000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:26227600-26233600	Strong transcription	Placenta	Placenta
32	chr7:26227600-26234200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:26227600-26235400	Strong transcription	Colonic Mucosa	Colon
34	chr7:26227600-26235600	Strong transcription	Osteobl	bone
35	chr7:26227600-26236400	Strong transcription	Fetal Brain Female	brain
36	chr7:26227800-26234000	Strong transcription	Fetal Muscle Leg	muscle
37	chr7:26227800-26234200	Strong transcription	NHDF-Ad	bronchial
38	chr7:26227800-26234800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:26228000-26234200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:26228000-26234400	Strong transcription	Fetal Lung	lung
41	chr7:26228000-26236000	Strong transcription	Fetal Brain Male	brain
42	chr7:26228000-26236200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr7:26228200-26234200	Strong transcription	Ovary	ovary
44	chr7:26228200-26236000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:26228200-26236000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr7:26228200-26236800	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr7:26228200-26236800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:26228400-26233000	Genic enhancers	Primary T cells from cord blood	blood
49	chr7:26228400-26234200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:26228400-26234200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood

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