Variant report

Variant	rs7902987
Chromosome Location	chr10:5854393-5854394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr10:5854261-5856683	K562	blood:	n/a	chr10:5855795-5855804 chr10:5855794-5855805 chr10:5855797-5855806 chr10:5855793-5855806 chr10:5855795-5855804 chr10:5855794-5855805 chr10:5855794-5855804 chr10:5856330-5856341 chr10:5855795-5855805 chr10:5855903-5855922 chr10:5855795-5855804 chr10:5855786-5855802
2	SIN3AK20	chr10:5854292-5855006	SK-N-SH	brain:	n/a	n/a
3	IRF1	chr10:5853079-5854877	K562	blood:	n/a	chr10:5853931-5853947
4	MXI1	chr10:5852991-5857043	SK-N-SH	brain:	n/a	chr10:5855794-5855803 chr10:5855794-5855803 chr10:5855796-5855805
5	MYC	chr10:5854080-5854781	H1-hESC	embryonic stem cell:	n/a	n/a
6	RUNX3	chr10:5854369-5856481	GM12878	blood:	n/a	n/a
7	MXI1	chr10:5854198-5856428	GM12878	blood:	n/a	chr10:5855794-5855803 chr10:5855794-5855803 chr10:5855796-5855805
8	POLR2A	chr10:5854340-5856939	GM18526	blood:	n/a	n/a
9	ATF2	chr10:5854306-5854623	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr10:5854345-5856432	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr10:5854372-5856659	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr10:5852865-5857536	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr10:5854063-5854409	HepG2	liver:	n/a	chr10:5854169-5854183 chr10:5854178-5854192 chr10:5854168-5854182
14	ESRRA	chr10:5853937-5857177	GM12878	blood:	n/a	chr10:5855737-5855749 chr10:5854470-5854482 chr10:5854465-5854481
15	POLR2A	chr10:5854160-5856539	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:5853823-5857228	GM12878	blood:	n/a	n/a
17	YY1	chr10:5854386-5856091	SK-N-SH	brain:	n/a	chr10:5855583-5855603 chr10:5855476-5855490 chr10:5855586-5855608 chr10:5854737-5854748 chr10:5855589-5855597 chr10:5855452-5855466 chr10:5855813-5855827 chr10:5854964-5854975 chr10:5854788-5854797 chr10:5855586-5855596 chr10:5855131-5855145 chr10:5855225-5855236
18	POLR2A	chr10:5854191-5857525	GM12892	blood:	n/a	n/a
19	REST	chr10:5853869-5856465	H1-neurons	neurons:	n/a	chr10:5855088-5855098 chr10:5854734-5854747 chr10:5854839-5854849
20	POLR2A	chr10:5854313-5857041	GM12892	blood:	n/a	n/a
21	BHLHE40	chr10:5854345-5854763	GM12878	blood:	n/a	n/a
22	POLR2A	chr10:5854175-5856388	HepG2	liver:	n/a	n/a
23	POLR2A	chr10:5854147-5859027	GM12891	blood:	n/a	n/a
24	POLR2A	chr10:5854254-5855995	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr10:5853265-5856938	IMR90	lung:	n/a	n/a
26	POLR2A	chr10:5854255-5856811	HepG2	liver:	n/a	n/a
27	MYC	chr10:5854342-5856812	A549	lung:	n/a	chr10:5855795-5855804 chr10:5855794-5855805 chr10:5855797-5855806 chr10:5855793-5855806 chr10:5855795-5855804 chr10:5855794-5855805 chr10:5855794-5855804 chr10:5856330-5856341 chr10:5855795-5855805 chr10:5855903-5855922 chr10:5855795-5855804 chr10:5855786-5855802
28	SIN3AK20	chr10:5854266-5856549	MCF-7	breast:	n/a	n/a
29	POLR2A	chr10:5854366-5854557	Hela-S3	cervix:	n/a	n/a
30	JUN	chr10:5854164-5856896	K562	blood:	n/a	chr10:5854841-5854850 chr10:5855488-5855497
31	CHD1	chr10:5853861-5856760	IMR90	lung:	n/a	chr10:5854926-5854936 chr10:5854992-5855002 chr10:5855258-5855265 chr10:5856554-5856564 chr10:5855561-5855570
32	TBP	chr10:5854355-5856376	H1-hESC	embryonic stem cell:	n/a	n/a
33	IRF1	chr10:5853729-5854672	K562	blood:	n/a	chr10:5853931-5853947
34	HEY1	chr10:5854118-5856436	HepG2	liver:	n/a	chr10:5855641-5855656 chr10:5855908-5855917 chr10:5855452-5855467 chr10:5855474-5855489 chr10:5855780-5855795 chr10:5854987-5855002 chr10:5855808-5855823
35	MAX	chr10:5854354-5856499	Hela-S3	cervix:	n/a	chr10:5855795-5855804 chr10:5855794-5855805 chr10:5855797-5855806 chr10:5855793-5855806 chr10:5855795-5855804 chr10:5855794-5855805 chr10:5855794-5855804 chr10:5856330-5856341 chr10:5855795-5855805 chr10:5855903-5855922 chr10:5855795-5855804 chr10:5855786-5855802
36	USF2	chr10:5854375-5854586	Hela-S3	cervix:	n/a	n/a
37	E2F4	chr10:5854331-5854821	MCF10A-Er-Src	breast:	n/a	n/a
38	TBL1XR1	chr10:5854235-5856147	GM12878	blood:	n/a	n/a
39	TAF1	chr10:5854301-5855952	H1-neurons	neurons:	n/a	n/a
40	CHD1	chr10:5853304-5855391	H1-hESC	embryonic stem cell:	n/a	chr10:5854926-5854936 chr10:5854992-5855002 chr10:5855258-5855265
41	POLR2A	chr10:5854387-5857333	K562	blood:	n/a	n/a
42	ZNF384	chr10:5854369-5854818	GM12878	blood:	n/a	n/a
43	POLR2A	chr10:5854182-5857522	GM12878	blood:	n/a	n/a
44	SIN3A	chr10:5854242-5856611	H1-hESC	embryonic stem cell:	n/a	chr10:5855796-5855805 chr10:5854734-5854747 chr10:5855794-5855803
45	POLR2A	chr10:5854270-5856462	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAZ	chr10:5854169-5856590	IMR90	lung:	n/a	chr10:5855795-5855804 chr10:5855794-5855805 chr10:5855797-5855806 chr10:5855793-5855806 chr10:5855795-5855804 chr10:5855794-5855805 chr10:5855794-5855804 chr10:5856330-5856341 chr10:5855795-5855805 chr10:5855903-5855922 chr10:5855795-5855804 chr10:5855786-5855802
47	POLR2A	chr10:5854258-5856557	HUVEC	blood vessel:	n/a	n/a
48	TCF12	chr10:5854361-5856639	A549	lung:	n/a	n/a
49	CHD1	chr10:5853873-5856399	GM12878	blood:	n/a	chr10:5854926-5854936 chr10:5854992-5855002 chr10:5855258-5855265 chr10:5855561-5855570
50	POLR2A	chr10:5854288-5856987	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5725503..5729426-chr10:5853777..5860412,5	MCF-7	breast:
2	chr10:5853439..5857708-chr10:5926443..5936823,24	K562	blood:
3	chr10:5672014..5674575-chr10:5854060..5856479,2	MCF-7	breast:
4	chr10:5769286..5771166-chr10:5852816..5855046,2	K562	blood:
5	chr10:5853185..5855023-chr10:5896110..5898472,2	K562	blood:
6	chr10:5852473..5857853-chr10:5880942..5888645,8	MCF-7	breast:
7	chr10:5816487..5819223-chr10:5854186..5856565,2	MCF-7	breast:
8	chr10:5711853..5714027-chr10:5850909..5854727,3	K562	blood:
9	chr10:5487246..5491032-chr10:5851403..5854778,3	K562	blood:
10	chr10:5853517..5856397-chr10:6017987..6020051,2	MCF-7	breast:
11	chr10:5853575..5857221-chr10:5900529..5905112,5	MCF-7	breast:
12	chr10:5487976..5490601-chr10:5853120..5856110,3	MCF-7	breast:
13	chr10:5664947..5667027-chr10:5854331..5857046,2	MCF-7	breast:
14	chr10:5834748..5836867-chr10:5852266..5855152,2	K562	blood:
15	chr10:5810933..5813093-chr10:5852041..5854972,2	K562	blood:
16	chr10:5851570..5858995-chr10:5881654..5887342,9	K562	blood:
17	chr10:5805727..5811403-chr10:5852267..5856532,7	MCF-7	breast:
18	chr10:5707157..5710880-chr10:5853405..5856185,3	K562	blood:
19	chr10:5813790..5816403-chr10:5853643..5855335,2	MCF-7	breast:
20	chr10:5815026..5819070-chr10:5852954..5857275,5	MCF-7	breast:
21	chr10:5708441..5709982-chr10:5853880..5856185,2	K562	blood:
22	chr10:5850869..5856128-chr10:5879241..5885807,8	K562	blood:
23	chr10:5725239..5729489-chr10:5854026..5858186,8	K562	blood:
24	chr10:5725427..5729550-chr10:5853446..5856157,4	MCF-7	breast:
25	chr10:5853267..5855548-chr10:5881785..5884894,3	MCF-7	breast:
26	chr10:5852595..5861125-chr10:5921136..5936216,31	MCF-7	breast:
27	chr10:5853820..5856785-chr10:5927225..5934067,15	K562	blood:
28	chr10:5853839..5856214-chr10:5942585..5945312,2	K562	blood:
29	chr10:5852308..5856409-chr10:5935538..5939554,4	K562	blood:
30	chr10:5853532..5857435-chr10:5928623..5934190,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272764	TF binding region
ENSG00000173848	Chromatin interaction
ENSG00000228685	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000240180	Chromatin interaction
ENSG00000057608	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000240577	Chromatin interaction
ENSG00000270427	Chromatin interaction
ENSG00000196372	Chromatin interaction
ENSG00000134470	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1057943	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11592993	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11593876	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594505	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11594846	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11595421	0.83[EUR][1000 genomes]
rs11596702	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11599810	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2386620	0.94[EUR][1000 genomes]
rs2386664	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2797484	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2797501	0.88[EUR][1000 genomes]
rs3736460	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45549643	0.83[EUR][1000 genomes]
rs56352451	0.92[EUR][1000 genomes]
rs61832759	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61832860	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61832863	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61832864	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61832865	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61832866	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61832870	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832872	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832874	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832878	0.91[ASN][1000 genomes]
rs61836362	0.95[EUR][1000 genomes]
rs7076584	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7093027	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72772369	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72774084	0.84[EUR][1000 genomes]
rs7475869	0.82[EUR][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	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv515935	chr10:5820394-5869839	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv549896	chr10:5820394-5880066	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr10:5843600-5854400	Weak transcription	Gastric	stomach
2	chr10:5847600-5854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:5850200-5854600	Weak transcription	Spleen	Spleen
4	chr10:5851200-5854800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr10:5851200-5854800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:5851400-5854400	Flanking Active TSS	HUVEC	blood vessel
7	chr10:5851600-5856200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr10:5851800-5854600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr10:5851800-5856000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:5852000-5854600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:5852000-5855800	Active TSS	HMEC	breast
12	chr10:5852000-5856800	Active TSS	NHLF	lung
13	chr10:5852400-5854400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr10:5852400-5854600	Flanking Active TSS	Liver	Liver
15	chr10:5852400-5854800	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr10:5852400-5854800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:5852400-5856600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr10:5852600-5854400	Weak transcription	Small Intestine	intestine
19	chr10:5852600-5854600	Active TSS	Right Atrium	heart
20	chr10:5852600-5856200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:5852600-5856400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr10:5852600-5856800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:5852800-5854400	Active TSS	HepG2	liver
24	chr10:5852800-5854800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:5852800-5854800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:5852800-5856400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr10:5852800-5856800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:5853000-5854600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:5853000-5856000	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr10:5853000-5856000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:5853000-5856000	Active TSS	Fetal Intestine Large	intestine
32	chr10:5853000-5856000	Active TSS	GM12878-XiMat	blood
33	chr10:5853000-5856000	Active TSS	NH-A	brain
34	chr10:5853000-5856200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:5853000-5856200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:5853000-5856200	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr10:5853000-5856200	Active TSS	Brain Germinal Matrix	brain
38	chr10:5853000-5856200	Active TSS	A549	lung
39	chr10:5853000-5856200	Active TSS	NHDF-Ad	bronchial
40	chr10:5853000-5856600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr10:5853000-5857000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:5853200-5854400	Active TSS	Primary T cells fromperipheralblood	blood
43	chr10:5853200-5854400	Flanking Active TSS	Fetal Lung	lung
44	chr10:5853200-5854400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr10:5853200-5854400	Flanking Active TSS	Dnd41	blood
46	chr10:5853200-5854800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr10:5853200-5856000	Active TSS	Muscle Satellite Cultured Cells	--
48	chr10:5853200-5856000	Active TSS	Brain Angular Gyrus	brain
49	chr10:5853200-5856000	Active TSS	Fetal Thymus	thymus
50	chr10:5853200-5856000	Active TSS	Hela-S3	cervix

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