Variant report

Variant	rs73612495
Chromosome Location	chr10:5856075-5856076
allele	G/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	BHLHE40	chr10:5855115-5856469	HepG2	liver:	n/a	chr10:5856331-5856340 chr10:5855115-5855131 chr10:5855131-5855147 chr10:5856325-5856346 chr10:5855450-5855466 chr10:5856331-5856340
2	POLR2A	chr10:5855825-5856162	HepG2	liver:	n/a	n/a
3	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
4	SMC3	chr10:5855923-5856349	HepG2	liver:	n/a	n/a
5	USF2	chr10:5855291-5856416	GM12878	blood:	n/a	chr10:5856331-5856340 chr10:5856325-5856346 chr10:5855450-5855466 chr10:5856331-5856340
6	EP300	chr10:5855209-5856233	GM12878	blood:	n/a	chr10:5855318-5855332 chr10:5855822-5855838
7	POLR2A	chr10:5854493-5856423	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr10:5854538-5856364	Hela-S3	cervix:	n/a	n/a
9	GATA3	chr10:5854562-5856150	A549	lung:	n/a	n/a
10	POLR2A	chr10:5854584-5856625	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr10:5854614-5857010	GM19193	blood:	n/a	n/a
12	PML	chr10:5854411-5856583	GM12878	blood:	n/a	n/a
13	MAFK	chr10:5855001-5856813	GM12878	blood:	n/a	chr10:5856342-5856362 chr10:5856344-5856360 chr10:5856345-5856359 chr10:5856346-5856356 chr10:5856347-5856362
14	UBTF	chr10:5854563-5856395	K562	blood:	n/a	n/a
15	MXI1	chr10:5852991-5857043	SK-N-SH	brain:	n/a	chr10:5855794-5855803 chr10:5855794-5855803 chr10:5855796-5855805
16	RUNX3	chr10:5854369-5856481	GM12878	blood:	n/a	n/a
17	MYC	chr10:5854897-5856749	MCF10A-Er-Src	breast:	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
18	MXI1	chr10:5854198-5856428	GM12878	blood:	n/a	chr10:5855794-5855803 chr10:5855794-5855803 chr10:5855796-5855805
19	MXI1	chr10:5854735-5856459	HepG2	liver:	n/a	chr10:5855794-5855803 chr10:5855794-5855803 chr10:5855796-5855805
20	POLR2A	chr10:5854340-5856939	GM18526	blood:	n/a	n/a
21	MTA3	chr10:5854399-5856725	GM12878	blood:	n/a	n/a
22	MAX	chr10:5854549-5856500	HepG2	liver:	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
23	BRCA1	chr10:5855346-5856458	H1-hESC	embryonic stem cell:	n/a	chr10:5855561-5855570
24	RCOR1	chr10:5854856-5856654	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:5854345-5856432	HUVEC	blood vessel:	n/a	n/a
26	YY1	chr10:5854640-5856155	GM12892	blood:	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
27	POLR2A	chr10:5854372-5856659	PFSK-1	brain:	n/a	n/a
28	CHD2	chr10:5854731-5856354	HepG2	liver:	n/a	chr10:5854926-5854936 chr10:5854992-5855002 chr10:5855258-5855265 chr10:5855561-5855570
29	MAFF	chr10:5855927-5856705	K562	blood:	n/a	chr10:5856345-5856359 chr10:5856346-5856364
30	TCF7L2	chr10:5855050-5856247	HCT-116	colon:	n/a	chr10:5856021-5856035
31	BCL3	chr10:5855461-5856535	A549	lung:	n/a	chr10:5856027-5856036
32	EP300	chr10:5855265-5856699	K562	blood:	n/a	chr10:5855318-5855332 chr10:5855822-5855838
33	YY1	chr10:5854575-5856230	GM12878	blood:	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
34	POLR2A	chr10:5852865-5857536	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr10:5854513-5856748	HUVEC	blood vessel:	n/a	n/a
36	STAT5A	chr10:5854539-5856457	GM12878	blood:	n/a	chr10:5854870-5854882 chr10:5854963-5854975 chr10:5856027-5856038
37	RELA	chr10:5855217-5856421	GM19193	blood:	n/a	n/a
38	TBP	chr10:5855222-5856496	Hela-S3	cervix:	n/a	n/a
39	RFX5	chr10:5855180-5856405	HepG2	liver:	n/a	n/a
40	ZC3H11A	chr10:5855661-5856392	K562	blood:	n/a	n/a
41	USF1	chr10:5856071-5856425	H1-hESC	embryonic stem cell:	n/a	chr10:5856331-5856340 chr10:5856325-5856346 chr10:5856331-5856340
42	POLR2A	chr10:5854619-5856378	K562	blood:	n/a	n/a
43	POLR2A	chr10:5854652-5856863	U87	brain:	n/a	n/a
44	E2F4	chr10:5855203-5856763	MCF10A-Er-Src	breast:	n/a	chr10:5855461-5855471 chr10:5855305-5855316 chr10:5855921-5855928 chr10:5855470-5855480 chr10:5855258-5855265 chr10:5855676-5855685 chr10:5855486-5855495 chr10:5855919-5855930 chr10:5855921-5855928 chr10:5855921-5855928 chr10:5855640-5855649
45	ZNF143	chr10:5854740-5856343	GM12878	blood:	n/a	chr10:5854958-5854977 chr10:5855867-5855885
46	POLR2A	chr10:5854632-5856966	HCT-116	colon:	n/a	n/a
47	ESRRA	chr10:5853937-5857177	GM12878	blood:	n/a	chr10:5855737-5855749 chr10:5854470-5854482 chr10:5854465-5854481
48	HCFC1	chr10:5854648-5856173	K562	blood:	n/a	n/a
49	RELA	chr10:5855159-5856576	GM18951	blood:	n/a	n/a
50	MBD4	chr10:5855660-5856481	HepG2	liver:	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	chr10:5855869..5856483-chr15:72522921..72523536,2	Hela-S3	cervix:
5	chr10:5852473..5857853-chr10:5880942..5888645,8	MCF-7	breast:
6	chr10:5816487..5819223-chr10:5854186..5856565,2	MCF-7	breast:
7	chr10:5853517..5856397-chr10:6017987..6020051,2	MCF-7	breast:
8	chr10:5853575..5857221-chr10:5900529..5905112,5	MCF-7	breast:
9	chr10:5732056..5734929-chr10:5855542..5857938,2	K562	blood:
10	chr10:5487976..5490601-chr10:5853120..5856110,3	MCF-7	breast:
11	chr10:5664947..5667027-chr10:5854331..5857046,2	MCF-7	breast:
12	chr10:5851570..5858995-chr10:5881654..5887342,9	K562	blood:
13	chr10:5805727..5811403-chr10:5852267..5856532,7	MCF-7	breast:
14	chr10:5707157..5710880-chr10:5853405..5856185,3	K562	blood:
15	chr10:5855633..5857899-chr8:144821553..144823070,2	MCF-7	breast:
16	chr10:5815026..5819070-chr10:5852954..5857275,5	MCF-7	breast:
17	chr10:5708441..5709982-chr10:5853880..5856185,2	K562	blood:
18	chr10:5850869..5856128-chr10:5879241..5885807,8	K562	blood:
19	chr10:5725239..5729489-chr10:5854026..5858186,8	K562	blood:
20	chr10:5725427..5729550-chr10:5853446..5856157,4	MCF-7	breast:
21	chr10:5852595..5861125-chr10:5921136..5936216,31	MCF-7	breast:
22	chr10:5853820..5856785-chr10:5927225..5934067,15	K562	blood:
23	chr10:5853839..5856214-chr10:5942585..5945312,2	K562	blood:
24	chr10:5809711..5811648-chr10:5855446..5857250,2	K562	blood:
25	chr10:5852308..5856409-chr10:5935538..5939554,4	K562	blood:
26	chr10:5810148..5812616-chr10:5855203..5857512,4	K562	blood:
27	chr10:5853532..5857435-chr10:5928623..5934190,13	MCF-7	breast:

Variant related genes	Relation type
GDI2	TF binding region
ENSG00000067225	Chromatin interaction
ENSG00000173848	Chromatin interaction
ENSG00000134470	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000240577	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000270427	Chromatin interaction
ENSG00000240180	Chromatin interaction
ENSG00000196372	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000228685	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000057608	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56102348	1.00[AMR][1000 genomes]
rs57266141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7903176	1.00[AMR][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	chr10:5851600-5856200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr10:5852000-5856800	Active TSS	NHLF	lung
3	chr10:5852400-5856600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr10:5852600-5856200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:5852600-5856400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:5852600-5856800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:5852800-5856400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr10:5852800-5856800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:5853000-5856200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:5853000-5856200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:5853000-5856200	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr10:5853000-5856200	Active TSS	Brain Germinal Matrix	brain
13	chr10:5853000-5856200	Active TSS	A549	lung
14	chr10:5853000-5856200	Active TSS	NHDF-Ad	bronchial
15	chr10:5853000-5856600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr10:5853000-5857000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:5853200-5856200	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr10:5853200-5856200	Active TSS	HSMMtube	muscle
19	chr10:5853200-5856400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:5853200-5856400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr10:5853200-5856400	Active TSS	Aorta	Aorta
22	chr10:5853200-5856400	Active TSS	Psoas Muscle	Psoas
23	chr10:5853200-5856400	Active TSS	Right Ventricle	heart
24	chr10:5853200-5856600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr10:5853200-5856600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:5853200-5857000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr10:5853400-5856200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:5853400-5856200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:5853400-5856400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr10:5853400-5856400	Active TSS	Ovary	ovary
31	chr10:5853400-5856600	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr10:5853400-5856600	Active TSS	Fetal Muscle Trunk	muscle
33	chr10:5853600-5856200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:5853600-5856200	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr10:5853600-5856200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:5853600-5856200	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr10:5853600-5856200	Active TSS	Brain Anterior Caudate	brain
38	chr10:5853600-5856200	Active TSS	Colonic Mucosa	Colon
39	chr10:5853600-5856200	Active TSS	Fetal Brain Male	brain
40	chr10:5853600-5856200	Active TSS	Fetal Stomach	stomach
41	chr10:5853600-5856200	Active TSS	Left Ventricle	heart
42	chr10:5853600-5856200	Active TSS	HSMM	muscle
43	chr10:5853600-5856400	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr10:5853600-5856600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr10:5853800-5856200	Active TSS	Brain Hippocampus Middle	brain
46	chr10:5853800-5856200	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr10:5853800-5856200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr10:5853800-5856200	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr10:5853800-5856200	Active TSS	Rectal Smooth Muscle	rectum
50	chr10:5853800-5856400	Active TSS	Thymus	Thymus

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