Variant report

Variant	rs530598963
Chromosome Location	chr3:136469393-136469394
allele	A/C
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	POLR2A	chr3:136468906-136472752	PBDE	blood:	n/a	n/a
2	TBP	chr3:136468937-136470513	Hela-S3	cervix:	n/a	n/a
3	ARID3A	chr3:136469214-136470334	K562	blood:	n/a	n/a
4	E2F4	chr3:136469260-136469873	MCF10A-Er-Src	breast:	n/a	chr3:136469293-136469302
5	ARID3A	chr3:136469160-136469611	HepG2	liver:	n/a	n/a
6	CHD1	chr3:136468963-136472242	GM12878	blood:	n/a	chr3:136470257-136470267
7	POLR2A	chr3:136468959-136472839	GM12891	blood:	n/a	n/a
8	TCF7L2	chr3:136468447-136469700	HEK293	kidney:	n/a	chr3:136469328-136469335
9	TBP	chr3:136468912-136469509	GM12878	blood:	n/a	n/a
10	MXI1	chr3:136469122-136470448	Hela-S3	cervix:	n/a	n/a
11	RFX5	chr3:136469092-136470746	Hela-S3	cervix:	n/a	chr3:136469294-136469303
12	RAD21	chr3:136468997-136472564	SK-N-SH	brain:	n/a	chr3:136471510-136471523 chr3:136471185-136471204 chr3:136471188-136471201 chr3:136471511-136471525 chr3:136471245-136471257 chr3:136471189-136471203 chr3:136471513-136471527 chr3:136471247-136471261 chr3:136471243-136471262 chr3:136470751-136470764
13	MYC	chr3:136469203-136472639	K562	blood:	n/a	chr3:136470730-136470740 chr3:136470527-136470536 chr3:136470260-136470270 chr3:136471424-136471434
14	EBF1	chr3:136469053-136469488	GM12878	blood:	n/a	chr3:136469213-136469223 chr3:136469213-136469222 chr3:136469212-136469223
15	MXI1	chr3:136469242-136472350	IMR90	lung:	n/a	chr3:136472194-136472203
16	MAZ	chr3:136469350-136472412	IMR90	lung:	n/a	chr3:136470730-136470740 chr3:136470527-136470536 chr3:136470260-136470270 chr3:136471424-136471434
17	POLR2A	chr3:136469048-136469679	HepG2	liver:	n/a	n/a
18	TCF7L2	chr3:136469097-136469587	PANC-1	pancreas:	n/a	chr3:136469328-136469335
19	POLR2A	chr3:136469129-136469460	MCF10A-Er-Src	breast:	n/a	n/a
20	GATA1	chr3:136468374-136470431	PBDE	blood:	n/a	chr3:136470275-136470286 chr3:136470111-136470120 chr3:136469391-136469407 chr3:136470108-136470124 chr3:136469393-136469405
21	POLR2A	chr3:136469086-136469749	Hela-S3	cervix:	n/a	n/a
22	IRF1	chr3:136469055-136469812	K562	blood:	n/a	chr3:136469403-136469417 chr3:136469403-136469417
23	POLR2A	chr3:136468958-136472707	MCF10A-Er-Src	breast:	n/a	n/a
24	CHD1	chr3:136468843-136472737	IMR90	lung:	n/a	chr3:136470257-136470267
25	POLR2A	chr3:136469045-136469635	GM12878	blood:	n/a	n/a
26	HCFC1	chr3:136468840-136472758	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:136466613..136474326-chr3:136579481..136583133,10	K562	blood:
2	chr11:355696..356315-chr3:136468945..136469445,2	Hela-S3	cervix:
3	chr3:136468701..136475672-chr3:136535815..136540749,9	K562	blood:
4	chr3:136350170..136353597-chr3:136468835..136472616,3	MCF-7	breast:
5	chr3:136208388..136211090-chr3:136467197..136470066,2	K562	blood:
6	chr3:136447967..136449476-chr3:136469163..136470945,2	MCF-7	breast:
7	chr3:136261604..136263396-chr3:136467886..136469461,2	K562	blood:
8	chr3:136469311..136474326-chr3:136579207..136583133,7	K562	blood:
9	chr3:136233567..136235148-chr3:136468458..136469958,2	K562	blood:
10	chr3:136389263..136391478-chr3:136467252..136469430,2	K562	blood:
11	chr3:136334079..136336516-chr3:136469054..136471144,3	MCF-7	breast:
12	chr3:136469358..136473351-chr3:136579831..136582888,9	MCF-7	breast:
13	chr3:136468701..136470951-chr3:136535903..136538830,3	K562	blood:
14	chr3:136444891..136447189-chr3:136467226..136469420,2	K562	blood:

Variant related genes	Relation type
ENSG00000261758	TF binding region
ENSG00000158092	Chromatin interaction
ENSG00000251708	Chromatin interaction
ENSG00000239213	Chromatin interaction
ENSG00000168917	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877529	chr3:136364511-136487559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1006737	chr3:136466188-136530743	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3423516	chr3:136469287-136472135	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136449000-136470000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:136454200-136470000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:136457400-136470000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:136458400-136470000	Weak transcription	Esophagus	oesophagus
5	chr3:136465800-136470000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:136467800-136469600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:136468000-136469800	Enhancers	Primary B cells from peripheral blood	blood
8	chr3:136468000-136470000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:136468200-136473000	Active TSS	A549	lung
10	chr3:136468400-136470000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:136468400-136470000	Weak transcription	Pancreas	Pancrea
12	chr3:136468400-136470000	Weak transcription	Stomach Mucosa	stomach
13	chr3:136468400-136470200	Weak transcription	Gastric	stomach
14	chr3:136468400-136472000	Active TSS	NHDF-Ad	bronchial
15	chr3:136468400-136472200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:136468400-136472200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:136468400-136472600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:136468600-136469400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr3:136468600-136469800	Flanking Active TSS	HUVEC	blood vessel
20	chr3:136468600-136469800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr3:136468600-136470000	Weak transcription	Lung	lung
22	chr3:136468600-136470400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr3:136468600-136471400	Active TSS	Right Atrium	heart
24	chr3:136468600-136472200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr3:136468800-136469400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr3:136468800-136469400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr3:136468800-136469600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:136468800-136469600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr3:136468800-136469800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:136468800-136469800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:136468800-136469800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:136468800-136469800	Flanking Active TSS	Dnd41	blood
33	chr3:136468800-136470000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr3:136468800-136470200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr3:136468800-136470400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:136468800-136472000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:136468800-136472000	Active TSS	HMEC	breast
38	chr3:136468800-136472200	Active TSS	GM12878-XiMat	blood
39	chr3:136469000-136469400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:136469000-136469400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr3:136469000-136469400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr3:136469000-136469400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr3:136469000-136469400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:136469000-136469400	Flanking Active TSS	Liver	Liver
45	chr3:136469000-136469400	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr3:136469000-136469400	Flanking Active TSS	Fetal Brain Female	brain
47	chr3:136469000-136469400	Flanking Active TSS	Fetal Lung	lung
48	chr3:136469000-136469400	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr3:136469000-136469400	Flanking Active TSS	Fetal Stomach	stomach
50	chr3:136469000-136469400	Flanking Active TSS	Fetal Thymus	thymus

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