Variant report

Variant	rs60100125
Chromosome Location	chr7:97591993-97591994
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	chr7:97590623-97592947	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr7:97591487-97593899	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr7:97591860-97592049	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:97590382-97595104	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr7:97587562-97595221	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr7:97590382-97594623	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr7:97591903-97593433	GM12892	blood:	n/a	n/a
8	POLR2A	chr7:97590649-97592227	GM12878	blood:	n/a	n/a
9	TCF3	chr7:97591875-97592538	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:97591880-97592272	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:97590431-97595529	K562	blood:	n/a	n/a
12	POLR2A	chr7:97591897-97592351	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr7:97591944-97592265	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:97591681-97594440	PBDE	blood:	n/a	n/a
15	POLR2A	chr7:97591920-97592560	GM12891	blood:	n/a	n/a
16	POLR2A	chr7:97590358-97593020	HepG2	liver:	n/a	n/a
17	POLR2A	chr7:97591584-97592929	MCF-7	breast:	n/a	n/a
18	POLR2A	chr7:97591675-97592002	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr7:97587702-97595211	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr7:97591734-97595056	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr7:97591959-97592412	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97591972..97594579-chr7:97599900..97601644,2	MCF-7	breast:
2	chr7:97590573..97595675-chr7:97595884..97599293,5	K562	blood:

Variant related genes	Relation type
MIR5692A2	TF binding region
ENSG00000183444	Chromatin interaction
ENSG00000243554	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57097373	1.00[AMR][1000 genomes]
rs59728634	0.83[AMR][1000 genomes]
rs60691739	0.83[AMR][1000 genomes]
rs73709031	1.00[AMR][1000 genomes]
rs73709039	0.83[AMR][1000 genomes]
rs73709040	0.83[AMR][1000 genomes]
rs73709143	1.00[AMR][1000 genomes]

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	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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97558200-97592600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:97563600-97595200	Weak transcription	Lung	lung
3	chr7:97573800-97600200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:97574000-97600400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:97580000-97594000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:97581000-97597800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:97581800-97598400	Weak transcription	Gastric	stomach
8	chr7:97582800-97596800	Weak transcription	Pancreas	Pancrea
9	chr7:97582800-97600600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:97584400-97593800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:97584600-97592600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:97584600-97600800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:97586200-97599400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:97586400-97594600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:97589000-97594400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:97589000-97595800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:97589200-97593200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:97589200-97594000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:97589200-97594400	Weak transcription	Spleen	Spleen
20	chr7:97589200-97595000	Weak transcription	Brain Angular Gyrus	brain
21	chr7:97590000-97595600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
22	chr7:97590200-97593200	Weak transcription	Fetal Thymus	thymus
23	chr7:97590400-97593600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:97590400-97593600	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr7:97590400-97594600	ZNF genes & repeats	Fetal Brain Female	brain
26	chr7:97590400-97594800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:97590600-97595600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:97590600-97597200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:97590800-97594200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:97591000-97594200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:97591200-97592800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:97591200-97593600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:97591200-97594400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:97591200-97598200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:97591400-97594000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:97591400-97594200	Weak transcription	GM12878-XiMat	blood
37	chr7:97591400-97594200	Weak transcription	K562	blood
38	chr7:97591400-97594400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:97591400-97600600	Weak transcription	Psoas Muscle	Psoas
40	chr7:97591400-97600600	Weak transcription	Right Ventricle	heart
41	chr7:97591600-97592400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:97591600-97594400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:97591600-97594600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr7:97591600-97594600	Weak transcription	A549	lung
45	chr7:97591800-97592000	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr7:97591800-97594000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:97591800-97594200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:97591800-97595400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr7:97591800-97597800	Weak transcription	NHEK	skin

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