Variant report

Variant	rs568129437
Chromosome Location	chr7:97602207-97602208
allele	A/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	chr7:97600849-97602249	GM12891	blood:	n/a	n/a
2	POLR2A	chr7:97602150-97602554	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F6	chr7:97602144-97602294	K562	blood:	n/a	n/a
4	GABPA	chr7:97600731-97602322	MCF-7	breast:	n/a	chr7:97601413-97601422
5	ELF1	chr7:97601124-97602239	GM12878	blood:	n/a	chr7:97601639-97601648 chr7:97601322-97601334 chr7:97601660-97601671 chr7:97601662-97601671 chr7:97601430-97601442 chr7:97601660-97601671
6	GABPA	chr7:97600688-97602282	A549	lung:	n/a	chr7:97601413-97601422
7	ELF1	chr7:97601206-97602209	MCF-7	breast:	n/a	chr7:97601639-97601648 chr7:97601322-97601334 chr7:97601660-97601671 chr7:97601662-97601671 chr7:97601430-97601442 chr7:97601660-97601671
8	MXI1	chr7:97599871-97602892	SK-N-SH	brain:	n/a	n/a
9	HCFC1	chr7:97600718-97602339	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr7:97600773-97602272	MCF10A-Er-Src	breast:	n/a	n/a
11	GABPA	chr7:97601159-97602249	K562	blood:	n/a	chr7:97601413-97601422
12	CBX3	chr7:97601400-97602281	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:97596068..97599027-chr7:97601330..97603299,2	K562	blood:
2	chr7:97499263..97502446-chr7:97599755..97603082,5	K562	blood:
3	chr7:97499263..97501796-chr7:97600194..97603082,4	K562	blood:
4	chr7:97499747..97502097-chr7:97599134..97602634,6	MCF-7	breast:
5	chr7:97595673..97597568-chr7:97600883..97603299,2	K562	blood:
6	chr7:97499971..97501829-chr7:97601279..97602819,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243554	TF binding region
ENSG00000226744	Chromatin interaction
ENSG00000183444	Chromatin interaction
ENSG00000070669	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv1844775	chr7:97502740-97606178	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv970555	chr7:97502806-97639154	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv981676	chr7:97597487-97608316	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	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
11	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
12	esv32764	chr7:97601058-97638993	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97600200-97602400	Active TSS	Stomach Smooth Muscle	stomach
2	chr7:97600200-97602800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:97600400-97602600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:97600400-97602800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:97600400-97602800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:97600400-97602800	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr7:97600600-97602600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr7:97600600-97602600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr7:97600600-97602600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:97600600-97602600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr7:97600600-97602600	Active TSS	Pancreas	Pancrea
12	chr7:97600600-97602600	Active TSS	A549	lung
13	chr7:97600600-97602600	Active TSS	GM12878-XiMat	blood
14	chr7:97600600-97602600	Active TSS	Hela-S3	cervix
15	chr7:97600600-97602800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:97600600-97602800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr7:97600800-97602400	Active TSS	Fetal Kidney	kidney
18	chr7:97600800-97602600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:97600800-97602600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:97600800-97602600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:97600800-97602800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:97600800-97602800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:97601000-97602600	Active TSS	Adipose Nuclei	Adipose
24	chr7:97601000-97602600	Active TSS	Brain Anterior Caudate	brain
25	chr7:97601000-97602600	Active TSS	Brain Cingulate Gyrus	brain
26	chr7:97601000-97602800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr7:97601600-97602400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:97601600-97602400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:97601600-97602400	Flanking Active TSS	Dnd41	blood
30	chr7:97602200-97602400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:97602200-97602400	Enhancers	Primary B cells from cord blood	blood
32	chr7:97602200-97602400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr7:97602200-97602400	Active TSS	Brain Germinal Matrix	brain
34	chr7:97602200-97602400	Active TSS	Fetal Lung	lung
35	chr7:97602200-97602600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:97602200-97602600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:97602200-97602600	Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr7:97602200-97602600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:97602200-97602600	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr7:97602200-97602600	Active TSS	HepG2	liver
41	chr7:97602200-97602800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:97602200-97604400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:97602200-97605600	Weak transcription	Esophagus	oesophagus

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