Variant report

Variant	rs532031526
Chromosome Location	chr6:33388031-33388032
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33387626-33388285	H1-neurons	neurons:	n/a	n/a
2	EGR1	chr6:33387785-33388075	K562	blood:	n/a	n/a
3	MAZ	chr6:33387360-33389235	IMR90	lung:	n/a	chr6:33388927-33388937
4	POLR2A	chr6:33387516-33388328	H1-neurons	neurons:	n/a	n/a
5	REST	chr6:33387196-33388764	H1-neurons	neurons:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:33242365..33247657-chr6:33386109..33388284,6	K562	blood:
2	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
3	chr6:33385453..33389637-chr6:33419628..33424957,5	MCF-7	breast:
4	chr6:33365854..33369434-chr6:33385468..33388336,3	K562	blood:
5	chr6:33264378..33268881-chr6:33383627..33388443,14	K562	blood:
6	chr6:33357638..33360083-chr6:33386720..33388943,3	MCF-7	breast:
7	chr6:33356382..33361019-chr6:33384058..33388661,8	K562	blood:
8	chr6:33285422..33287849-chr6:33385883..33388858,2	MCF-7	breast:
9	chr6:33237639..33241732-chr6:33383253..33390116,11	K562	blood:
10	chr6:33357335..33362175-chr6:33383352..33389421,14	K562	blood:
11	chr6:33242542..33249529-chr6:33381747..33388277,18	K562	blood:
12	chr6:33279097..33283546-chr6:33386045..33390564,5	MCF-7	breast:
13	chr6:33237802..33241730-chr6:33382199..33389112,10	K562	blood:

No data

Variant related genes	Relation type
CUTA	TF binding region
SYNGAP1	TF binding region
ENSG00000204194	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000237649	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	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv885769	chr6:33377522-33412197	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv932196	chr6:33383131-33400706	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
6	esv3491403	chr6:33386574-33390272	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
7	esv3491404	chr6:33386574-33390272	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
8	esv3325690	chr6:33386999-33389547	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	esv3404776	chr6:33387074-33389997	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33386000-33392600	Weak transcription	Gastric	stomach
2	chr6:33386200-33389400	Flanking Active TSS	Dnd41	blood
3	chr6:33386600-33388400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:33386600-33389200	Enhancers	Fetal Heart	heart
5	chr6:33386800-33389000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr6:33386800-33389800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr6:33386800-33392600	Weak transcription	Left Ventricle	heart
8	chr6:33387000-33388400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr6:33387000-33392200	Weak transcription	Hela-S3	cervix
10	chr6:33387200-33388800	Active TSS	Fetal Brain Female	brain
11	chr6:33387400-33388200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:33387400-33388600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:33387400-33388600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:33387400-33388600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:33387400-33389000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:33387400-33389200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:33387400-33389600	Active TSS	Brain Angular Gyrus	brain
18	chr6:33387400-33392200	Weak transcription	Placenta	Placenta
19	chr6:33387400-33392200	Weak transcription	Spleen	Spleen
20	chr6:33387600-33388200	Active TSS	Psoas Muscle	Psoas
21	chr6:33387600-33388400	Active TSS	Aorta	Aorta
22	chr6:33387600-33388400	Active TSS	Colonic Mucosa	Colon
23	chr6:33387600-33388400	Active TSS	Right Ventricle	heart
24	chr6:33387600-33388600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:33387600-33388600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:33387600-33388600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr6:33387600-33388600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr6:33387600-33388600	Active TSS	Ovary	ovary
29	chr6:33387600-33388800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:33387600-33389000	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr6:33387600-33389000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr6:33387600-33389200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr6:33387600-33389200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:33387600-33389400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr6:33387600-33392400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr6:33387800-33388200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:33387800-33388200	Enhancers	Primary T cells from cord blood	blood
38	chr6:33387800-33388200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:33387800-33388200	Enhancers	Fetal Brain Male	brain
40	chr6:33387800-33388200	Active TSS	Fetal Muscle Leg	muscle
41	chr6:33387800-33388200	Active TSS	Fetal Thymus	thymus
42	chr6:33387800-33388200	Active TSS	Stomach Smooth Muscle	stomach
43	chr6:33387800-33388200	Active TSS	K562	blood
44	chr6:33387800-33388400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:33387800-33388400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:33387800-33388400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:33387800-33388400	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr6:33387800-33388400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:33387800-33388400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr6:33387800-33388400	Active TSS	Fetal Lung	lung

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