Variant report

Variant	rs10230363
Chromosome Location	chr7:100733345-100733346
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100731934-100733502	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:100733187-100733584	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:100732968-100733623	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:100733299-100733383	A549	lung:	n/a	n/a
5	POLR2A	chr7:100733195-100733493	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:100732517-100733602	GM12892	blood:	n/a	n/a
7	POLR2A	chr7:100730027-100733736	K562	blood:	n/a	n/a
8	POLR2A	chr7:100732638-100733449	GM19193	blood:	n/a	n/a
9	POLR2A	chr7:100733121-100733619	GM12891	blood:	n/a	n/a
10	POLR2A	chr7:100732042-100733670	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:100733190-100733595	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:100729990-100733585	GM12892	blood:	n/a	n/a
13	POLR2A	chr7:100733198-100733524	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100733241..100735630-chr7:100761919..100764639,2	K562	blood:
2	chr7:100486155..100488924-chr7:100732323..100735470,4	MCF-7	breast:
3	chr7:100730924..100734717-chr7:100859526..100862672,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260336	TF binding region
ENSG00000176125	Chromatin interaction
ENSG00000106400	Chromatin interaction
ENSG00000106397	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10233905	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238656	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900	0.81[AMR][1000 genomes]
rs11546152	1.00[ASN][1000 genomes]
rs2227666	1.00[ASN][1000 genomes]
rs28693845	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56158981	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56275099	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61520366	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730716	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730718	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241	1.00[ASN][1000 genomes]
rs73712063	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73712067	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv831074	chr7:100606051-100745532	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
15	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100729400-100734000	Weak transcription	Fetal Brain Female	brain
2	chr7:100729400-100736000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:100729400-100737800	Weak transcription	Small Intestine	intestine
4	chr7:100729400-100742600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:100729400-100742600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:100729400-100742800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:100729400-100742800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:100729600-100734200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:100729600-100735000	Weak transcription	Fetal Kidney	kidney
10	chr7:100729600-100736600	Weak transcription	NH-A	brain
11	chr7:100729600-100742800	Weak transcription	Brain Angular Gyrus	brain
12	chr7:100729800-100733400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:100729800-100734800	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr7:100730000-100733400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:100730000-100733400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:100730000-100733400	Strong transcription	Osteobl	bone
17	chr7:100730000-100733800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:100730200-100733400	Genic enhancers	Spleen	Spleen
19	chr7:100730200-100733600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:100730200-100734600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:100730200-100734800	Strong transcription	Fetal Thymus	thymus
22	chr7:100730200-100735000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:100730200-100735200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr7:100730200-100735400	Strong transcription	Fetal Stomach	stomach
25	chr7:100730400-100733400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:100730400-100733400	Strong transcription	Brain Hippocampus Middle	brain
27	chr7:100730400-100733600	Strong transcription	Aorta	Aorta
28	chr7:100730400-100733800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr7:100730400-100734000	Weak transcription	Primary B cells from cord blood	blood
30	chr7:100730400-100734200	Strong transcription	Fetal Intestine Small	intestine
31	chr7:100730400-100734600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:100730400-100734800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:100730400-100734800	Strong transcription	Primary T cells from cord blood	blood
34	chr7:100730400-100734800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:100730400-100735000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:100730400-100735000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr7:100730400-100735200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr7:100730400-100735600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:100730400-100735600	Strong transcription	Thymus	Thymus
40	chr7:100730400-100738000	Weak transcription	HepG2	liver
41	chr7:100730400-100742600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:100730600-100733600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:100730600-100733600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr7:100730600-100734400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
45	chr7:100730600-100734400	Strong transcription	NHLF	lung
46	chr7:100730600-100734800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr7:100730600-100734800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr7:100730600-100735000	Strong transcription	Fetal Intestine Large	intestine
49	chr7:100730600-100735200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:100730600-100737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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