Variant report

Variant	rs538633530
Chromosome Location	chr10:50323704-50323705
allele	C/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	RCOR1	chr10:50323584-50323952	K562	blood:	n/a	n/a
2	POLR2A	chr10:50323137-50323858	GM18951	blood:	n/a	n/a
3	CTCF	chr10:50323145-50323716	K562	blood:	n/a	n/a
4	E2F6	chr10:50323338-50323800	K562	blood:	n/a	chr10:50323442-50323454 chr10:50323533-50323542 chr10:50323456-50323466 chr10:50323534-50323544
5	CTCF	chr10:50323094-50323802	K562	blood:	n/a	n/a
6	CCNT2	chr10:50323077-50323857	K562	blood:	n/a	chr10:50323655-50323664
7	BACH1	chr10:50323658-50323952	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr10:50322965-50323882	K562	blood:	n/a	n/a
9	MYC	chr10:50322989-50324184	K562	blood:	n/a	n/a
10	JUND	chr10:50323674-50323886	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr10:50323343-50323824	K562	blood:	n/a	chr10:50323442-50323454 chr10:50323533-50323542 chr10:50323456-50323466 chr10:50323534-50323544
12	MAZ	chr10:50322944-50323967	K562	blood:	n/a	n/a
13	JUND	chr10:50323554-50323949	K562	blood:	n/a	n/a
14	ZNF143	chr10:50323560-50323937	K562	blood:	n/a	chr10:50323687-50323697
15	POLR2A	chr10:50323241-50323885	K562	blood:	n/a	n/a
16	ZNF143	chr10:50323565-50323949	H1-hESC	embryonic stem cell:	n/a	chr10:50323687-50323697
17	ATF3	chr10:50323426-50323778	K562	blood:	n/a	chr10:50323542-50323562
18	RCOR1	chr10:50323458-50324528	IMR90	lung:	n/a	n/a
19	YY1	chr10:50323329-50323932	K562	blood:	n/a	chr10:50323533-50323542 chr10:50323533-50323544 chr10:50323536-50323545 chr10:50323537-50323551
20	CBX3	chr10:50323620-50323895	K562	blood:	n/a	n/a
21	TBL1XR1	chr10:50323665-50323854	K562	blood:	n/a	n/a
22	RCOR1	chr10:50323399-50324329	K562	blood:	n/a	n/a
23	RAD21	chr10:50322809-50323709	H1-hESC	embryonic stem cell:	n/a	chr10:50323187-50323201 chr10:50323680-50323694
24	MAX	chr10:50323347-50323985	K562	blood:	n/a	n/a
25	ZBTB7A	chr10:50322837-50324093	K562	blood:	n/a	chr10:50323893-50323902
26	HEY1	chr10:50323635-50323845	K562	blood:	n/a	n/a
27	POLR2A	chr10:50323110-50323759	Gliobla	brain:	n/a	n/a
28	MAX	chr10:50322936-50323779	K562	blood:	n/a	n/a
29	POLR2A	chr10:50323463-50323898	K562	blood:	n/a	n/a
30	MYC	chr10:50323579-50323876	K562	blood:	n/a	n/a
31	TBP	chr10:50323484-50323858	K562	blood:	n/a	n/a
32	CTCF	chr10:50323680-50323830	K562	blood:	n/a	n/a
33	HMGN3	chr10:50322852-50324002	K562	blood:	n/a	n/a
34	YY1	chr10:50323401-50323865	K562	blood:	n/a	chr10:50323533-50323542 chr10:50323533-50323544 chr10:50323536-50323545 chr10:50323537-50323551
35	MAX	chr10:50323531-50323780	K562	blood:	n/a	n/a
36	POLR2A	chr10:50321339-50323841	IMR90	lung:	n/a	n/a
37	CBX3	chr10:50323554-50323957	K562	blood:	n/a	n/a
38	CTCF	chr10:50323111-50323710	IMR90	lung:	n/a	n/a
39	POLR2A	chr10:50323028-50323873	K562	blood:	n/a	n/a
40	HCFC1	chr10:50322890-50323898	K562	blood:	n/a	n/a
41	E2F6	chr10:50322852-50323903	K562	blood:	n/a	chr10:50323442-50323454 chr10:50323533-50323542 chr10:50323456-50323466 chr10:50323534-50323544
42	UBTF	chr10:50322849-50323789	K562	blood:	n/a	n/a
43	RAD21	chr10:50322840-50323900	IMR90	lung:	n/a	chr10:50323187-50323201 chr10:50323680-50323694
44	UBTF	chr10:50322808-50323825	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50322533..50324257-chr10:50507150..50509486,2	K562	blood:
2	chr10:50322283..50325786-chr10:50341748..50344745,3	K562	blood:

Variant related genes	Relation type
VSTM4	TF binding region
ENSG00000177354	Chromatin interaction
ENSG00000172538	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	esv2761593	chr10:50276812-50336129	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv1824894	chr10:50309905-50340304	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv550817	chr10:50319387-50328494	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3497465	chr10:50322646-50324644	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3497466	chr10:50322646-50324644	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv11643	chr10:50323048-50323975	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv550818	chr10:50323229-50323939	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1796109	chr10:50323229-50326725	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv1802290	chr10:50323229-50326725	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv1818143	chr10:50323229-50332930	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50321800-50324000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
2	chr10:50322000-50324000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr10:50322200-50323800	Active TSS	Right Ventricle	heart
4	chr10:50322200-50324000	Active TSS	Aorta	Aorta
5	chr10:50322200-50324600	Active TSS	Brain Cingulate Gyrus	brain
6	chr10:50322400-50323800	Active TSS	Left Ventricle	heart
7	chr10:50322400-50323800	Active TSS	Ovary	ovary
8	chr10:50322400-50323800	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr10:50322400-50324000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:50322400-50324000	Active TSS	Right Atrium	heart
11	chr10:50322400-50324000	Active TSS	HSMMtube	muscle
12	chr10:50322600-50323800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
13	chr10:50322600-50323800	Active TSS	Fetal Kidney	kidney
14	chr10:50322600-50323800	Active TSS	Psoas Muscle	Psoas
15	chr10:50322600-50323800	Active TSS	NH-A	brain
16	chr10:50322600-50324000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:50322600-50324000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:50322600-50324000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:50322600-50324000	Active TSS	Fetal Lung	lung
20	chr10:50322600-50324000	Active TSS	Rectal Smooth Muscle	rectum
21	chr10:50322800-50323800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr10:50322800-50323800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:50322800-50323800	Bivalent/Poised TSS	Colonic Mucosa	Colon
24	chr10:50322800-50323800	Active TSS	Fetal Stomach	stomach
25	chr10:50322800-50323800	Active TSS	HSMM	muscle
26	chr10:50322800-50324000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr10:50322800-50324000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:50322800-50324000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr10:50322800-50324000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr10:50322800-50324000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr10:50322800-50324000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr10:50322800-50324000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr10:50322800-50324000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:50322800-50324000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:50322800-50324000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
36	chr10:50322800-50324000	Active TSS	Brain Substantia Nigra	brain
37	chr10:50322800-50324000	Active TSS	Colon Smooth Muscle	Colon
38	chr10:50322800-50324000	Active TSS	Esophagus	oesophagus
39	chr10:50322800-50324000	Active TSS	NHDF-Ad	bronchial
40	chr10:50322800-50324400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr10:50322800-50324600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:50323000-50323800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:50323000-50323800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:50323000-50323800	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr10:50323000-50323800	Active TSS	Brain Anterior Caudate	brain
46	chr10:50323000-50323800	Active TSS	Brain Hippocampus Middle	brain
47	chr10:50323000-50323800	Active TSS	Fetal Muscle Leg	muscle
48	chr10:50323000-50323800	Bivalent/Poised TSS	Thymus	Thymus
49	chr10:50323000-50324000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr10:50323000-50324000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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