Variant report

Variant	rs17132619
Chromosome Location	chr7:102390266-102390267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:76751236..76752770-chr7:102389322..102390934,2	MCF-7	breast:
2	chr7:102389494..102391981-chr7:102714130..102716680,2	MCF-7	breast:
3	chr7:102387955..102390990-chr7:102714406..102717094,4	MCF-7	breast:
4	chr7:102389047..102390959-chr7:102788572..102791008,2	K562	blood:
5	chr7:102388357..102390801-chr7:102713734..102717426,3	K562	blood:

Variant related genes	Relation type
ENSG00000214439	Chromatin interaction
ENSG00000161040	Chromatin interaction
ENSG00000161048	Chromatin interaction
ENSG00000135205	Chromatin interaction
ENSG00000170632	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10281791	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11981219	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28414073	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28705249	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56304424	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9690623	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv888845	chr7:102113909-102398479	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv471337	chr7:102114386-102418049	Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv471505	chr7:102114386-102418049	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv471534	chr7:102114386-102418049	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv471535	chr7:102114386-102418049	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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 target site	25 gene(s)	inside rSNPs	diseases
10	nsv471540	chr7:102114386-102418049	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv1016419	chr7:102238120-102405421	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
12	nsv1029058	chr7:102238120-102406735	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	nsv1031471	chr7:102238120-102429404	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	nsv1034146	chr7:102288510-102402610	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	nsv1034233	chr7:102288510-102418702	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
16	nsv469620	chr7:102296392-102454063	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv482714	chr7:102296392-102454063	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv1033548	chr7:102316707-102402610	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
19	nsv888922	chr7:102322456-102398479	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
20	nsv966870	chr7:102332269-102395247	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
21	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
22	esv2761100	chr7:102335787-102481978	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
23	nsv1028732	chr7:102345949-102394073	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
24	nsv1023265	chr7:102347032-102406735	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
25	nsv1027415	chr7:102351847-102394073	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
26	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
27	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17132619	POLR2J2///POLR2J3///POLR2J4	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102388600-102390400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:102388600-102390400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:102388600-102390600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:102388600-102390600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:102388600-102390600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:102388600-102390600	Active TSS	A549	lung
7	chr7:102388600-102390800	Active TSS	Brain Hippocampus Middle	brain
8	chr7:102388600-102391000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:102388800-102390400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:102388800-102390400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:102388800-102390400	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr7:102388800-102390400	Active TSS	Fetal Intestine Large	intestine
13	chr7:102388800-102390400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:102388800-102390400	Active TSS	Fetal Lung	lung
15	chr7:102388800-102390400	Active TSS	Ovary	ovary
16	chr7:102388800-102390400	Active TSS	Psoas Muscle	Psoas
17	chr7:102388800-102390600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr7:102388800-102390600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:102388800-102390600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:102388800-102390600	Active TSS	Stomach Smooth Muscle	stomach
21	chr7:102388800-102390600	Active TSS	NH-A	brain
22	chr7:102388800-102390800	Active TSS	H1 Cell Line	embryonic stem cell
23	chr7:102388800-102390800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:102388800-102390800	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr7:102388800-102390800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr7:102388800-102391000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:102388800-102391000	Active TSS	Fetal Brain Female	brain
28	chr7:102389000-102390400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:102389000-102390400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:102389000-102390400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:102389000-102390400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:102389000-102390400	Active TSS	Brain Cingulate Gyrus	brain
33	chr7:102389000-102390400	Active TSS	Fetal Kidney	kidney
34	chr7:102389000-102390400	Active TSS	Fetal Muscle Trunk	muscle
35	chr7:102389000-102390400	Active TSS	Right Ventricle	heart
36	chr7:102389000-102390400	Active TSS	Thymus	Thymus
37	chr7:102389000-102390400	Active TSS	HSMM	muscle
38	chr7:102389000-102390600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:102389000-102390600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr7:102389000-102390600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr7:102389000-102390600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr7:102389000-102390600	Active TSS	Rectal Smooth Muscle	rectum
43	chr7:102389000-102390600	Active TSS	Right Atrium	heart
44	chr7:102389000-102390800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:102389000-102391000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:102389000-102391400	Active TSS	Hela-S3	cervix
47	chr7:102389200-102390400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:102389200-102390400	Active TSS	Brain Angular Gyrus	brain
49	chr7:102389200-102390400	Active TSS	Brain Anterior Caudate	brain
50	chr7:102389200-102390400	Active TSS	Fetal Stomach	stomach

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