Variant report

Variant	rs4722589
Chromosome Location	chr7:26233650-26233651
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr7:26233379-26233778	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:26231477-26237614	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	CTCF	chr7:26233520-26233670	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:26233030-26234416	HL-60	blood:	n/a	n/a
7	POLR2A	chr7:26233553-26234779	K562	blood:	n/a	n/a
8	SPI1	chr7:26233516-26233768	GM12891	blood:	n/a	chr7:26233655-26233668
9	POLR2A	chr7:26231542-26235280	GM12892	blood:	n/a	n/a
10	POLR2A	chr7:26225899-26235179	K562	blood:	n/a	n/a
11	POLR2A	chr7:26233020-26233729	GM12891	blood:	n/a	n/a
12	POLR2A	chr7:26232971-26234461	GM12892	blood:	n/a	n/a
13	POLR2A	chr7:26231544-26237489	GM12892	blood:	n/a	n/a
14	WRNIP1	chr7:26233570-26233685	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:26225911-26234500	K562	blood:	n/a	n/a
16	POLR2A	chr7:26231584-26234693	GM12892	blood:	n/a	n/a
17	POLR2A	chr7:26217417-26242495	GM12878	blood:	n/a	n/a
18	CTCF	chr7:26233580-26233730	AG09319	gingival:	n/a	chr7:26233651-26233672 chr7:26233656-26233674
19	POLR2A	chr7:26232976-26234742	GM12891	blood:	n/a	n/a
20	POLR2A	chr7:26233046-26233781	HCT-116	colon:	n/a	n/a
21	POLR2A	chr7:26231393-26233862	U87	brain:	n/a	n/a
22	POLR2A	chr7:26229791-26237535	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:26232411-26234652	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr7:26231560-26234757	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr7:26229794-26233794	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr7:26225840-26234567	HepG2	liver:	n/a	n/a
27	POLR2A	chr7:26219147-26241658	K562	blood:	n/a	n/a
28	POLR2A	chr7:26222589-26243037	K562	blood:	n/a	n/a
29	POLR2A	chr7:26229811-26234632	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr7:26233265-26233836	HUVEC	blood vessel:	n/a	n/a
31	SPI1	chr7:26233394-26233774	HL-60	blood:	n/a	chr7:26233655-26233668
32	POLR2A	chr7:26231490-26235276	K562	blood:	n/a	n/a
33	POLR2A	chr7:26221760-26237544	A549	lung:	n/a	n/a
34	TBP	chr7:26233513-26233650	GM12878	blood:	n/a	n/a
35	POLR2A	chr7:26225919-26237367	K562	blood:	n/a	n/a
36	RFX5	chr7:26233445-26233827	K562	blood:	n/a	n/a
37	POLR2A	chr7:26230952-26235352	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr7:26217906-26237432	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr7:26231393-26233794	U87	brain:	n/a	n/a
40	ZNF143	chr7:26233553-26233759	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:26221714-26237502	GM18505	blood:	n/a	n/a
42	ZNF263	chr7:26233188-26234360	HEK293-T-REx	kidney:	n/a	n/a
43	POLR2A	chr7:26233547-26233876	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:26225898-26242757	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr7:26232942-26235243	GM12891	blood:	n/a	n/a
46	POLR2A	chr7:26225903-26235670	K562	blood:	n/a	n/a
47	POLR2A	chr7:26221711-26237534	GM12891	blood:	n/a	n/a
48	MXI1	chr7:26233489-26233684	GM12878	blood:	n/a	n/a
49	POLR2A	chr7:26233562-26234436	HL-60	blood:	n/a	n/a
50	POLR2A	chr7:26231900-26234514	U87	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26187891..26202612-chr7:26221953..26234536,42	K562	blood:
2	chr7:25932201..25934471-chr7:26231808..26233877,2	K562	blood:
3	chr3:185654916..185655522-chr7:26233134..26233855,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
HNRNPA2B1	TF binding region
ENSG00000050344	Chromatin interaction
ENSG00000136527	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	chr7:26224000-26235000	Strong transcription	NH-A	brain
6	chr7:26224200-26235000	Strong transcription	NHEK	skin
7	chr7:26224400-26234400	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr7:26224800-26236000	Strong transcription	HSMM	muscle
9	chr7:26224800-26236800	Strong transcription	HSMMtube	muscle
10	chr7:26225800-26234800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:26226000-26234800	Strong transcription	Thymus	Thymus
12	chr7:26226000-26235000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:26226400-26236200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:26227000-26234000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:26227000-26234200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr7:26227000-26234800	Strong transcription	NHLF	lung
17	chr7:26227000-26235600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:26227400-26234800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:26227400-26236000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:26227600-26234200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:26227600-26235400	Strong transcription	Colonic Mucosa	Colon
22	chr7:26227600-26235600	Strong transcription	Osteobl	bone
23	chr7:26227600-26236400	Strong transcription	Fetal Brain Female	brain
24	chr7:26227800-26234000	Strong transcription	Fetal Muscle Leg	muscle
25	chr7:26227800-26234200	Strong transcription	NHDF-Ad	bronchial
26	chr7:26227800-26234800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:26228000-26234200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:26228000-26234400	Strong transcription	Fetal Lung	lung
29	chr7:26228000-26236000	Strong transcription	Fetal Brain Male	brain
30	chr7:26228000-26236200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:26228200-26234200	Strong transcription	Ovary	ovary
32	chr7:26228200-26236000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:26228200-26236000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr7:26228200-26236800	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr7:26228200-26236800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:26228400-26234200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:26228400-26234200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr7:26228400-26235000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:26228400-26235600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr7:26228600-26233800	Weak transcription	Gastric	stomach
41	chr7:26228600-26234000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:26228600-26236600	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr7:26228800-26233800	Weak transcription	Spleen	Spleen
44	chr7:26228800-26234000	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:26229200-26234800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr7:26229400-26236600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr7:26230000-26234200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr7:26230200-26233800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:26230200-26233800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:26230200-26237200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood

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