Variant report

Variant	rs10499571
Chromosome Location	chr7:26235905-26235906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 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	SIX5	chr7:26235835-26236318	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:26234765-26237399	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:26221696-26237480	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:26234743-26243058	K562	blood:	n/a	n/a
6	POLR2A	chr7:26225813-26242266	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr7:26234771-26237585	U87	brain:	n/a	n/a
8	CHD1	chr7:26235855-26242752	GM12878	blood:	n/a	n/a
9	HEY1	chr7:26235885-26237530	K562	blood:	n/a	n/a
10	POLR2A	chr7:26235544-26236173	GM12892	blood:	n/a	n/a
11	TAF7	chr7:26235827-26236657	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:26235863-26236297	GM12891	blood:	n/a	n/a
13	POLR2A	chr7:26235867-26235947	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:26235845-26236700	HUVEC	blood vessel:	n/a	n/a
15	ZMIZ1	chr7:26235493-26236011	K562	blood:	n/a	n/a
16	USF2	chr7:26235880-26235991	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr7:26231544-26237489	GM12892	blood:	n/a	n/a
18	POLR2A	chr7:26234757-26236203	HepG2	liver:	n/a	n/a
19	POLR2A	chr7:26235894-26236784	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr7:26217417-26242495	GM12878	blood:	n/a	n/a
21	ATF2	chr7:26235400-26235908	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr7:26235879-26237147	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr7:26229791-26237535	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:26235871-26237082	K562	blood:	n/a	n/a
25	POLR2A	chr7:26233946-26237633	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr7:26235846-26236751	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr7:26235857-26241978	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr7:26219147-26241658	K562	blood:	n/a	n/a
29	POLR2A	chr7:26222589-26243037	K562	blood:	n/a	n/a
30	POLR2A	chr7:26234765-26237545	PANC-1	pancreas:	n/a	n/a
31	SP1	chr7:26235821-26237122	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr7:26235298-26237270	GM12892	blood:	n/a	n/a
33	POLR2A	chr7:26221760-26237544	A549	lung:	n/a	n/a
34	POLR2A	chr7:26225919-26237367	K562	blood:	n/a	n/a
35	POLR2A	chr7:26217906-26237432	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr7:26235867-26236116	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr7:26234641-26237639	U87	brain:	n/a	n/a
38	POLR2A	chr7:26235328-26237462	GM12891	blood:	n/a	n/a
39	POLR2A	chr7:26221714-26237502	GM18505	blood:	n/a	n/a
40	MXI1	chr7:26234540-26244604	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr7:26235430-26237397	K562	blood:	n/a	n/a
42	POLR2A	chr7:26235837-26236281	GM12891	blood:	n/a	n/a
43	POLR2A	chr7:26225898-26242757	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:26235411-26237583	H1-hESC	embryonic stem cell:	n/a	n/a
45	MXI1	chr7:26235358-26237607	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:26221711-26237534	GM12891	blood:	n/a	n/a
47	CHD1	chr7:26234064-26243804	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr7:26225913-26237582	K562	blood:	n/a	n/a
49	POLR2A	chr7:26234704-26237387	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:26235364-26236143	GM12892	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26234108..26236318-chr7:26400894..26402821,2	MCF-7	breast:
2	chr7:26204554..26206378-chr7:26234760..26236409,2	MCF-7	breast:
3	chr7:26234275..26236316-chr7:26281778..26283500,2	MCF-7	breast:
4	chr7:26191444..26193489-chr7:26235586..26237855,2	K562	blood:
5	chr7:26235076..26236673-chr7:26331695..26333731,2	K562	blood:

No data

Variant related genes	Relation type
HNRNPA2B1	TF binding region
CBX3	TF binding region
ENSG00000050344	Chromatin interaction
ENSG00000086300	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11976883	1.00[CHB][hapmap]
rs12669191	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12669830	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16870111	1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17153328	1.00[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17153368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17153396	0.90[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3757673	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes]
rs73281578	0.85[ASN][1000 genomes]
rs73281586	0.83[ASN][1000 genomes]
rs7794892	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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	chr7:26218200-26236000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:26224800-26236000	Strong transcription	HSMM	muscle
3	chr7:26224800-26236800	Strong transcription	HSMMtube	muscle
4	chr7:26226400-26236200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:26227400-26236000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:26227600-26236400	Strong transcription	Fetal Brain Female	brain
7	chr7:26228000-26236000	Strong transcription	Fetal Brain Male	brain
8	chr7:26228000-26236200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr7:26228200-26236000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:26228200-26236000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr7:26228200-26236800	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr7:26228200-26236800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:26228600-26236600	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr7:26229400-26236600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr7:26230200-26237200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
16	chr7:26230400-26236800	Genic enhancers	Liver	Liver
17	chr7:26230600-26236800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:26230800-26236600	Genic enhancers	Colon Smooth Muscle	Colon
19	chr7:26231200-26236000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:26231600-26236000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:26231600-26236200	Strong transcription	Esophagus	oesophagus
22	chr7:26231600-26236600	Genic enhancers	Brain Cingulate Gyrus	brain
23	chr7:26231600-26236800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:26231600-26236800	Genic enhancers	Brain Substantia Nigra	brain
25	chr7:26231600-26239600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
26	chr7:26231800-26236800	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr7:26231800-26239600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:26232000-26236400	Genic enhancers	Brain Anterior Caudate	brain
29	chr7:26232000-26236600	Genic enhancers	Brain Inferior Temporal Lobe	brain
30	chr7:26232000-26236800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:26232000-26236800	Genic enhancers	Brain Angular Gyrus	brain
32	chr7:26232000-26237600	Genic enhancers	Fetal Heart	heart
33	chr7:26232200-26236000	Genic enhancers	Primary hematopoietic stem cells	blood
34	chr7:26232200-26236400	Genic enhancers	Rectal Smooth Muscle	rectum
35	chr7:26232200-26236600	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr7:26232200-26236800	Genic enhancers	Brain Hippocampus Middle	brain
37	chr7:26232200-26236800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr7:26232200-26237000	Genic enhancers	Fetal Intestine Large	intestine
39	chr7:26232200-26237200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
40	chr7:26232400-26236800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
41	chr7:26232400-26237400	Transcr. at gene 5' and 3'	A549	lung
42	chr7:26233000-26236400	Genic enhancers	Stomach Smooth Muscle	stomach
43	chr7:26233000-26236600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:26233200-26236400	Genic enhancers	Fetal Thymus	thymus
45	chr7:26233200-26239600	Transcr. at gene 5' and 3'	Dnd41	blood
46	chr7:26233400-26236000	Genic enhancers	Hela-S3	cervix
47	chr7:26233400-26237200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
48	chr7:26233400-26242800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:26233600-26236000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:26233800-26236800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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