Variant report

Variant	rs546730968
Chromosome Location	chr7:97840676-97840677
allele	C/T
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	RAD21	chr7:97840631-97840878	HepG2	liver:	n/a	chr7:97840769-97840782
2	HEY1	chr7:97840631-97840856	HepG2	liver:	n/a	n/a
3	MAX	chr7:97840605-97840887	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr7:97840642-97841349	K562	blood:	n/a	chr7:97841309-97841318 chr7:97841308-97841317 chr7:97840955-97840965
5	POLR2A	chr7:97840634-97840863	K562	blood:	n/a	n/a
6	HEY1	chr7:97840672-97840848	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:97840585-97840869	HCT-116	colon:	n/a	n/a
8	POLR2A	chr7:97840610-97841390	HepG2	liver:	n/a	n/a
9	HDAC2	chr7:97840624-97840915	H1-hESC	embryonic stem cell:	n/a	n/a
10	HDAC2	chr7:97840644-97841559	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:97840610-97840891	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr7:97840565-97840717	HepG2	liver:	n/a	chr7:97840589-97840599
13	POLR2A	chr7:97840619-97840882	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr7:97840625-97841302	MCF-7	breast:	n/a	chr7:97840955-97840965
15	TCF12	chr7:97840626-97841104	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr7:97840663-97840869	GM12878	blood:	n/a	n/a
17	MAX	chr7:97840629-97841622	HepG2	liver:	n/a	chr7:97841309-97841318 chr7:97841308-97841317 chr7:97840955-97840965
18	MAX	chr7:97840626-97841669	HepG2	liver:	n/a	chr7:97841309-97841318 chr7:97841308-97841317 chr7:97840955-97840965

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97840173..97842487-chr7:97845725..97848039,2	MCF-7	breast:
2	chr7:97839660..97842920-chr7:97872632..97874833,3	K562	blood:

Variant related genes	Relation type
BHLHA15	TF binding region
ENSG00000205356	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS 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	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription 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	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv888761	chr7:97829492-97844578	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv888762	chr7:97829492-97853184	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv888763	chr7:97829492-97866291	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv888764	chr7:97832628-97844578	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv888765	chr7:97834386-97853184	Bivalent Enhancer Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv3355961	chr7:97839041-97842189	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv3424111	chr7:97839316-97841814	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv3341216	chr7:97839416-97841614	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97765800-97840800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:97793400-97841000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:97812000-97841000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:97822400-97841000	Weak transcription	K562	blood
5	chr7:97823000-97851000	Weak transcription	HSMMtube	muscle
6	chr7:97824600-97840800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:97825200-97851000	Weak transcription	Fetal Lung	lung
8	chr7:97833800-97841000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:97834600-97841000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:97834600-97841000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:97835600-97841000	Weak transcription	HUVEC	blood vessel
12	chr7:97836000-97851000	Weak transcription	NHLF	lung
13	chr7:97836400-97841000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:97836400-97841000	Weak transcription	GM12878-XiMat	blood
15	chr7:97836600-97840800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:97836600-97840800	Weak transcription	Gastric	stomach
17	chr7:97836600-97840800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:97836600-97846200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:97836600-97847200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:97836800-97841000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:97836800-97841000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:97836800-97857200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:97837000-97840800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:97837000-97846600	Weak transcription	Dnd41	blood
25	chr7:97837200-97840800	Weak transcription	Primary T cells from cord blood	blood
26	chr7:97837200-97841000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:97837600-97840800	Weak transcription	Liver	Liver
28	chr7:97838200-97840800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:97839200-97841000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:97839200-97844800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:97839200-97851000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:97839400-97841000	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr7:97839400-97841000	Weak transcription	Lung	lung
34	chr7:97839400-97841400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr7:97839600-97840800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:97839600-97841000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr7:97839600-97841000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:97839600-97841000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:97839600-97841200	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr7:97839600-97841200	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr7:97839600-97841200	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr7:97839600-97841200	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr7:97839600-97841200	Active TSS	Fetal Brain Female	brain
44	chr7:97839600-97841400	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr7:97839800-97840800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:97839800-97840800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr7:97839800-97840800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:97839800-97840800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:97839800-97841000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:97839800-97841000	Enhancers	Primary B cells from peripheral blood	blood

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