Variant report

Variant	rs78243431
Chromosome Location	chr15:93430485-93430486
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	POLR2A	chr15:93430432-93430979	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr15:93424836-93430889	H1-neurons	neurons:	n/a	chr15:93425104-93425118
3	POLR2A	chr15:93430422-93430716	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr15:93429935-93430966	K562	blood:	n/a	n/a
5	POLR2A	chr15:93430242-93431158	MCF-7	breast:	n/a	n/a
6	POLR2A	chr15:93430091-93430778	U87	brain:	n/a	n/a
7	POLR2A	chr15:93430290-93430907	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr15:93430438-93430932	K562	blood:	n/a	n/a
9	CHD1	chr15:93430484-93430786	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:93429556-93432410	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:93429857-93431813	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr15:93430448-93430916	HepG2	liver:	n/a	n/a
13	POLR2A	chr15:93429603-93431558	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr15:93427505-93431721	HepG2	liver:	n/a	n/a
15	CHD1	chr15:93424901-93431299	IMR90	lung:	n/a	chr15:93426483-93426493 chr15:93426003-93426013
16	TBL1XR1	chr15:93426835-93430813	K562	blood:	n/a	n/a
17	POLR2A	chr15:93429560-93430930	A549	lung:	n/a	n/a
18	POLR2A	chr15:93426496-93432432	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:93333327..93367027-chr15:93419774..93462750,363	K562	blood:
2	chr15:93344712..93371031-chr15:93418700..93467618,365	MCF-7	breast:
3	chr15:93180406..93183251-chr15:93430441..93434489,3	MCF-7	breast:
4	chr15:93337836..93370220-chr15:93420085..93452591,332	K562	blood:
5	chr15:93345383..93371459-chr15:93416796..93454653,318	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272888	TF binding region
ENSG00000258527	Chromatin interaction
ENSG00000185442	Chromatin interaction
ENSG00000258922	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
2	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
3	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
4	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
5	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv1047496	chr15:93412778-93475878	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1036560	chr15:93413594-93462163	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
8	esv1851305	chr15:93429646-93446869	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93424400-93430800	Active TSS	Aorta	Aorta
2	chr15:93425000-93431800	Active TSS	Right Atrium	heart
3	chr15:93425400-93430800	Active TSS	Stomach Smooth Muscle	stomach
4	chr15:93426400-93431600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:93426800-93430800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:93426800-93431800	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr15:93426800-93432200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:93427000-93431400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:93427200-93433000	Weak transcription	Spleen	Spleen
10	chr15:93427200-93433600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:93427200-93433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:93427200-93433800	Weak transcription	Gastric	stomach
13	chr15:93427200-93434000	Weak transcription	Lung	lung
14	chr15:93427200-93437800	Weak transcription	Esophagus	oesophagus
15	chr15:93427800-93435400	Weak transcription	Small Intestine	intestine
16	chr15:93427800-93435600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
17	chr15:93428000-93433800	Weak transcription	Left Ventricle	heart
18	chr15:93428000-93434600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:93428400-93430800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:93428400-93432600	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr15:93428400-93433400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
22	chr15:93428400-93434000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr15:93428400-93435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:93428600-93430800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
25	chr15:93428600-93431000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
26	chr15:93428600-93431000	Transcr. at gene 5' and 3'	NH-A	brain
27	chr15:93428600-93431600	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
28	chr15:93428600-93437000	Weak transcription	Colonic Mucosa	Colon
29	chr15:93428600-93443600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:93428800-93431000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
31	chr15:93428800-93431400	Weak transcription	Psoas Muscle	Psoas
32	chr15:93428800-93431800	Genic enhancers	Hela-S3	cervix
33	chr15:93428800-93432400	Enhancers	Fetal Heart	heart
34	chr15:93428800-93432400	Weak transcription	Fetal Stomach	stomach
35	chr15:93428800-93432800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:93428800-93435600	Weak transcription	Ovary	ovary
37	chr15:93428800-93437800	Weak transcription	Right Ventricle	heart
38	chr15:93429000-93430600	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:93429000-93430600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
40	chr15:93429000-93430800	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:93429000-93430800	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
42	chr15:93429000-93431200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
43	chr15:93429000-93431200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
44	chr15:93429000-93432200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:93429000-93433400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
46	chr15:93429000-93437000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr15:93429200-93430800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr15:93429200-93430800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
49	chr15:93429200-93430800	Enhancers	Stomach Mucosa	stomach
50	chr15:93429200-93431000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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