Variant report

Variant	rs375597526
Chromosome Location	chr10:5931026-5931027
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:161)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:161 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr10:5930835-5932390	K562	blood:	n/a	n/a
2	MXI1	chr10:5930847-5932400	GM12878	blood:	n/a	n/a
3	MAX	chr10:5930832-5931369	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr10:5930845-5931157	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr10:5930804-5931208	ECC-1	luminal epithelium:	n/a	n/a
6	HEY1	chr10:5930891-5931178	K562	blood:	n/a	n/a
7	POLR2A	chr10:5930910-5931164	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr10:5930920-5931070	K562	blood:	n/a	n/a
9	TAF1	chr10:5930844-5931420	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr10:5930922-5931214	HepG2	liver:	n/a	n/a
11	HEY1	chr10:5930862-5931244	HepG2	liver:	n/a	n/a
12	POLR2A	chr10:5930831-5931288	GM12891	blood:	n/a	n/a
13	CTCF	chr10:5930975-5931096	GM20000	blood:	n/a	n/a
14	EBF1	chr10:5931008-5931353	GM12878	blood:	n/a	n/a
15	POLR2A	chr10:5930717-5931156	GM12892	blood:	n/a	n/a
16	MAX	chr10:5930268-5932989	HepG2	liver:	n/a	chr10:5932340-5932350
17	MXI1	chr10:5930179-5932450	IMR90	lung:	n/a	n/a
18	ZKSCAN1	chr10:5930996-5931093	Hela-S3	cervix:	n/a	n/a
19	TAF1	chr10:5930895-5931127	GM12878	blood:	n/a	n/a
20	TCF7L2	chr10:5930941-5932202	HCT-116	colon:	n/a	n/a
21	POLR2A	chr10:5930772-5931260	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr10:5930794-5931409	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr10:5930370-5932966	HepG2	liver:	n/a	chr10:5932340-5932350
24	POLR2A	chr10:5930349-5931084	GM12878	blood:	n/a	n/a
25	SMC3	chr10:5930981-5931145	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr10:5930752-5931187	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chr10:5929938-5933656	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr10:5930576-5932605	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr10:5930850-5932830	GM19099	blood:	n/a	n/a
30	POLR2A	chr10:5930832-5931182	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr10:5930994-5931044	GM10248	blood:	n/a	n/a
32	YY1	chr10:5930883-5931679	GM12878	blood:	n/a	chr10:5931541-5931552
33	POLR2A	chr10:5930797-5931196	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr10:5930859-5932747	GM18951	blood:	n/a	n/a
35	MYC	chr10:5930847-5932362	K562	blood:	n/a	chr10:5932340-5932350
36	CTCF	chr10:5930961-5931153	GM12892	blood:	n/a	n/a
37	POLR2A	chr10:5930873-5931231	GM12892	blood:	n/a	n/a
38	YY1	chr10:5930925-5931480	K562	blood:	n/a	n/a
39	CTCF	chr10:5930920-5931070	AG09319	gingival:	n/a	n/a
40	TAF1	chr10:5930783-5931416	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr10:5930796-5932318	A549	lung:	n/a	n/a
42	CTCF	chr10:5930960-5931110	GM12864	blood:	n/a	n/a
43	POLR2A	chr10:5930819-5931329	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr10:5930900-5931050	WERI-Rb-1	eye:	n/a	n/a
45	YY1	chr10:5930882-5931427	GM12892	blood:	n/a	n/a
46	JUND	chr10:5930853-5931199	H1-hESC	embryonic stem cell:	n/a	chr10:5930971-5930980
47	CTCF	chr10:5930955-5931122	GM19238	blood:	n/a	n/a
48	POLR2A	chr10:5930830-5932856	A549	lung:	n/a	n/a
49	MAX	chr10:5930912-5931329	K562	blood:	n/a	n/a
50	POLR2A	chr10:5930492-5931178	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5904346..5907644-chr10:5928919..5931742,3	MCF-7	breast:
2	chr10:5725094..5729377-chr10:5927689..5933777,6	MCF-7	breast:
3	chr10:5853532..5857435-chr10:5928623..5934190,13	MCF-7	breast:
4	chr10:5903402..5905306-chr10:5930976..5933543,3	MCF-7	breast:
5	chr10:5852595..5861125-chr10:5921136..5936216,31	MCF-7	breast:
6	chr10:5930925..5933506-chr10:6244058..6246915,2	MCF-7	breast:
7	chr10:5930398..5933295-chr10:6184026..6187985,3	K562	blood:
8	chr10:5929157..5931311-chr10:6018059..6019673,2	MCF-7	breast:
9	chr10:5930440..5932910-chr10:5957697..5960803,4	MCF-7	breast:
10	chr10:5853820..5856785-chr10:5927225..5934067,15	K562	blood:
11	chr10:5853439..5857708-chr10:5926443..5936823,24	K562	blood:
12	chr10:5488345..5491486-chr10:5930515..5933192,3	MCF-7	breast:
13	chr10:5725559..5728313-chr10:5930802..5933492,3	K562	blood:

No data

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

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

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5929800-5931200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:5930000-5931200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
3	chr10:5930000-5931200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr10:5930200-5931200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr10:5930200-5931200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr10:5930200-5931200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:5930200-5931200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:5930200-5931200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:5930200-5931200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:5930200-5931200	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr10:5930200-5931200	Flanking Active TSS	Liver	Liver
12	chr10:5930200-5931200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr10:5930200-5931200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr10:5930200-5931200	Flanking Active TSS	HMEC	breast
15	chr10:5930200-5932600	Active TSS	Fetal Muscle Trunk	muscle
16	chr10:5930400-5931200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr10:5930400-5931200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr10:5930400-5931200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr10:5930400-5931200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr10:5930400-5931200	Flanking Active TSS	Fetal Thymus	thymus
21	chr10:5930400-5931200	Flanking Active TSS	Pancreas	Pancrea
22	chr10:5930400-5931200	Flanking Active TSS	Psoas Muscle	Psoas
23	chr10:5930400-5931800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr10:5930400-5931800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr10:5930400-5931800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr10:5930600-5931200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:5930600-5931200	Flanking Active TSS	Colonic Mucosa	Colon
28	chr10:5930600-5931200	Flanking Active TSS	Placenta	Placenta
29	chr10:5930600-5931200	Flanking Active TSS	Lung	lung
30	chr10:5930600-5931200	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr10:5930600-5931200	Flanking Active TSS	Spleen	Spleen
32	chr10:5930600-5931200	Flanking Active TSS	Dnd41	blood
33	chr10:5930600-5931200	Bivalent/Poised TSS	HepG2	liver
34	chr10:5930600-5932600	Active TSS	H1 Cell Line	embryonic stem cell
35	chr10:5930600-5932600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:5930600-5932600	Active TSS	Aorta	Aorta
37	chr10:5930600-5932800	Active TSS	Fetal Intestine Small	intestine
38	chr10:5930600-5933000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:5930600-5933000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr10:5930600-5933000	Active TSS	GM12878-XiMat	blood
41	chr10:5930600-5933200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:5930600-5933200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr10:5930600-5933400	Active TSS	Ovary	ovary
44	chr10:5930600-5933600	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr10:5930800-5931200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:5930800-5931800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
47	chr10:5930800-5932600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:5930800-5932600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:5930800-5932600	Active TSS	Brain Anterior Caudate	brain
50	chr10:5930800-5932600	Active TSS	Brain Hippocampus Middle	brain

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