Variant report

Variant	rs563362188
Chromosome Location	chr10:5932752-5932753
allele	A/G
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	MAX	chr10:5932678-5932761	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:5931585-5932882	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr10:5932585-5932906	ECC-1	luminal epithelium:	n/a	n/a
4	MXI1	chr10:5932661-5932768	Hela-S3	cervix:	n/a	n/a
5	MAX	chr10:5930268-5932989	HepG2	liver:	n/a	chr10:5932340-5932350
6	POLR2A	chr10:5932582-5932868	HepG2	liver:	n/a	n/a
7	MAX	chr10:5930370-5932966	HepG2	liver:	n/a	chr10:5932340-5932350
8	HEY1	chr10:5932060-5933493	K562	blood:	n/a	chr10:5932150-5932165 chr10:5932125-5932140 chr10:5932557-5932572 chr10:5932551-5932566
9	HCFC1	chr10:5932693-5932800	K562	blood:	n/a	n/a
10	WRNIP1	chr10:5932689-5933434	GM12878	blood:	n/a	n/a
11	MXI1	chr10:5929938-5933656	SK-N-SH	brain:	n/a	n/a
12	MTA3	chr10:5932490-5933112	GM12878	blood:	n/a	n/a
13	POLR2A	chr10:5932034-5932879	GM12892	blood:	n/a	n/a
14	POLR2A	chr10:5930850-5932830	GM19099	blood:	n/a	n/a
15	POLR2A	chr10:5931581-5932899	HEK293	kidney:	n/a	n/a
16	POLR2A	chr10:5931380-5933554	GM12878	blood:	n/a	n/a
17	GATA2	chr10:5932673-5933046	SH-SY5Y	brain:	n/a	n/a
18	HEY1	chr10:5932538-5932752	K562	blood:	n/a	chr10:5932557-5932572 chr10:5932551-5932566
19	POLR2A	chr10:5931571-5933387	GM12878	blood:	n/a	n/a
20	RUNX3	chr10:5932502-5932929	GM12878	blood:	n/a	n/a
21	POLR2A	chr10:5931591-5933439	K562	blood:	n/a	n/a
22	POLR2A	chr10:5930830-5932856	A549	lung:	n/a	n/a
23	HEY1	chr10:5931484-5932783	HepG2	liver:	n/a	chr10:5932150-5932165 chr10:5932125-5932140 chr10:5932557-5932572 chr10:5931971-5931986 chr10:5932551-5932566
24	GABPA	chr10:5931015-5932852	K562	blood:	n/a	chr10:5931426-5931435 chr10:5932025-5932034
25	TBP	chr10:5931676-5932867	HepG2	liver:	n/a	n/a
26	POLR2A	chr10:5930814-5932829	MCF-7	breast:	n/a	n/a
27	MAZ	chr10:5931558-5932819	GM12878	blood:	n/a	chr10:5932340-5932350
28	POLR2A	chr10:5932501-5932923	Hela-S3	cervix:	n/a	n/a
29	EBF1	chr10:5932514-5932885	GM12878	blood:	n/a	n/a
30	MYC	chr10:5932560-5932814	MCF-7	breast:	n/a	n/a
31	POLR2A	chr10:5931431-5933473	K562	blood:	n/a	n/a
32	NRF1	chr10:5932708-5932963	GM12878	blood:	n/a	n/a
33	POLR2A	chr10:5930908-5932934	GM18526	blood:	n/a	n/a
34	MAX	chr10:5932661-5932843	K562	blood:	n/a	n/a
35	SIN3AK20	chr10:5932514-5932852	H1-hESC	embryonic stem cell:	n/a	n/a
36	RFX5	chr10:5932660-5932878	Hela-S3	cervix:	n/a	n/a
37	ZNF143	chr10:5931633-5932816	GM12878	blood:	n/a	n/a
38	MAX	chr10:5932538-5932806	HepG2	liver:	n/a	n/a
39	POLR2A	chr10:5931519-5933088	IMR90	lung:	n/a	n/a
40	CHD2	chr10:5932733-5932893	HepG2	liver:	n/a	n/a
41	POLR2A	chr10:5932528-5933432	K562	blood:	n/a	n/a
42	EBF1	chr10:5932652-5932904	GM12878	blood:	n/a	n/a
43	MAX	chr10:5930656-5933014	A549	lung:	n/a	chr10:5932340-5932350
44	MAX	chr10:5930399-5933314	K562	blood:	n/a	chr10:5932340-5932350
45	SIN3AK20	chr10:5930768-5932765	K562	blood:	n/a	n/a
46	CEBPB	chr10:5932656-5932775	HepG2	liver:	n/a	n/a
47	POLR2A	chr10:5931554-5933291	MCF10A-Er-Src	breast:	n/a	n/a
48	CHD1	chr10:5932701-5932851	GM12878	blood:	n/a	n/a
49	POLR2A	chr10:5931555-5933556	HepG2	liver:	n/a	n/a
50	MYC	chr10:5932580-5932811	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5707419..5708953-chr10:5931052..5933501,2	MCF-7	breast:
2	chr10:5725094..5729377-chr10:5927689..5933777,6	MCF-7	breast:
3	chr10:5932395..5934386-chr10:6130743..6132352,2	K562	blood:
4	chr10:5707177..5709381-chr10:5931479..5933432,3	MCF-7	breast:
5	chr10:5853532..5857435-chr10:5928623..5934190,13	MCF-7	breast:
6	chr10:5903402..5905306-chr10:5930976..5933543,3	MCF-7	breast:
7	chr10:5931810..5933817-chr10:6018457..6020176,2	MCF-7	breast:
8	chr10:5852595..5861125-chr10:5921136..5936216,31	MCF-7	breast:
9	chr10:5930925..5933506-chr10:6244058..6246915,2	MCF-7	breast:
10	chr10:5930398..5933295-chr10:6184026..6187985,3	K562	blood:
11	chr10:5930440..5932910-chr10:5957697..5960803,4	MCF-7	breast:
12	chr10:5853820..5856785-chr10:5927225..5934067,15	K562	blood:
13	chr10:5931081..5933467-chr10:5942750..5946622,4	MCF-7	breast:
14	chr10:5853439..5857708-chr10:5926443..5936823,24	K562	blood:
15	chr10:5488345..5491486-chr10:5930515..5933192,3	MCF-7	breast:
16	chr10:5836323..5837944-chr10:5932347..5934576,2	K562	blood:
17	chr10:5725559..5728313-chr10:5930802..5933492,3	K562	blood:

Variant related genes	Relation type
ANKRD16	TF binding region
FBXO18	TF binding region
ENSG00000134453	Chromatin interaction
ENSG00000173848	Chromatin interaction
ENSG00000057608	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000240180	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000196372	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000134470	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv825229	chr10:5886905-5967697	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv466724	chr10:5920836-5938544	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	nsv549906	chr10:5920836-5938544	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
8	esv3389321	chr10:5930371-5933119	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
9	esv3360468	chr10:5930971-5933519	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	esv3363304	chr10:5931446-5933494	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 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	chr10:5930600-5932800	Active TSS	Fetal Intestine Small	intestine
2	chr10:5930600-5933000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:5930600-5933000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr10:5930600-5933000	Active TSS	GM12878-XiMat	blood
5	chr10:5930600-5933200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:5930600-5933200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:5930600-5933400	Active TSS	Ovary	ovary
8	chr10:5930600-5933600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr10:5930800-5932800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:5930800-5932800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr10:5930800-5932800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr10:5930800-5932800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:5930800-5932800	Active TSS	Colon Smooth Muscle	Colon
14	chr10:5930800-5932800	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr10:5930800-5932800	Active TSS	Fetal Kidney	kidney
16	chr10:5930800-5932800	Active TSS	Fetal Stomach	stomach
17	chr10:5930800-5932800	Active TSS	Rectal Smooth Muscle	rectum
18	chr10:5930800-5932800	Active TSS	HSMMtube	muscle
19	chr10:5930800-5932800	Active TSS	Osteobl	bone
20	chr10:5930800-5933000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr10:5930800-5933000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:5930800-5933000	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr10:5930800-5933000	Active TSS	Small Intestine	intestine
24	chr10:5930800-5933000	Active TSS	A549	lung
25	chr10:5930800-5933200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr10:5930800-5933200	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr10:5930800-5933400	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr10:5930800-5933400	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr10:5931000-5932800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr10:5931000-5932800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:5931000-5932800	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr10:5931000-5932800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr10:5931000-5932800	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr10:5931000-5932800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr10:5931000-5932800	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr10:5931000-5932800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:5931000-5932800	Active TSS	Muscle Satellite Cultured Cells	--
38	chr10:5931000-5932800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:5931000-5932800	Active TSS	Brain Angular Gyrus	brain
40	chr10:5931000-5932800	Active TSS	Fetal Brain Female	brain
41	chr10:5931000-5932800	Active TSS	Fetal Intestine Large	intestine
42	chr10:5931000-5932800	Active TSS	Fetal Lung	lung
43	chr10:5931000-5932800	Active TSS	Fetal Muscle Leg	muscle
44	chr10:5931000-5932800	Active TSS	Stomach Smooth Muscle	stomach
45	chr10:5931000-5932800	Active TSS	Thymus	Thymus
46	chr10:5931000-5932800	Active TSS	Hela-S3	cervix
47	chr10:5931000-5932800	Active TSS	HUVEC	blood vessel
48	chr10:5931000-5932800	Active TSS	K562	blood
49	chr10:5931000-5932800	Active TSS	NHEK	skin
50	chr10:5931000-5932800	Active TSS	NHLF	lung

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