Variant report

Variant	rs55833792
Chromosome Location	chr7:100482339-100482340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100480317-100488960	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:100480382-100488921	K562	blood:	n/a	n/a
3	POLR2A	chr7:100481058-100482657	K562	blood:	n/a	n/a
4	POLR2A	chr7:100481058-100488237	Hela-S3	cervix:	n/a	n/a
5	GABPA	chr7:100482285-100482771	HL-60	blood:	n/a	n/a
6	POLR2A	chr7:100481688-100483394	GM12892	blood:	n/a	n/a
7	POLR2A	chr7:100482327-100482576	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:100480707-100488395	K562	blood:	n/a	n/a
9	POLR2A	chr7:100482192-100482608	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr7:100482275-100488325	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr7:100481303-100483301	GM12878	blood:	n/a	n/a
12	SPI1	chr7:100482303-100482795	HL-60	blood:	n/a	n/a
13	POLR2A	chr7:100482325-100482844	K562	blood:	n/a	n/a
14	POLR2A	chr7:100482229-100483027	GM12891	blood:	n/a	n/a
15	POLR2A	chr7:100482208-100482751	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr7:100481436-100483371	GM12892	blood:	n/a	n/a
17	POLR2A	chr7:100481005-100489061	K562	blood:	n/a	n/a
18	POLR2A	chr7:100482302-100482683	GM12891	blood:	n/a	n/a
19	POLR2A	chr7:100481359-100482774	GM12892	blood:	n/a	n/a
20	POLR2A	chr7:100482216-100483274	GM12891	blood:	n/a	n/a
21	POLR2A	chr7:100481367-100484271	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:100274295..100276245-chr7:100482186..100484644,2	K562	blood:
2	chr7:100480504..100482568-chr7:100725845..100728828,2	MCF-7	breast:
3	chr7:100179244..100181643-chr7:100480633..100482895,2	MCF-7	breast:

No data

Variant related genes	Relation type
SRRT	TF binding region
ENSG00000077454	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000169871	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10247855	1.00[ASN][1000 genomes]
rs10261229	1.00[ASN][1000 genomes]
rs11171	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162518	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17228616	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1799805	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571602	0.83[EUR][1000 genomes]
rs2904852	1.00[ASN][1000 genomes]
rs34840477	1.00[ASN][1000 genomes]
rs4236546	1.00[ASN][1000 genomes]
rs4236547	1.00[ASN][1000 genomes]
rs4364565	1.00[ASN][1000 genomes]
rs4448204	1.00[ASN][1000 genomes]
rs4574778	1.00[ASN][1000 genomes]
rs56194187	1.00[ASN][1000 genomes]
rs56696877	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56966144	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57322794	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57753967	1.00[AFR][1000 genomes]
rs58194245	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61357484	0.81[AFR][1000 genomes]
rs6465778	1.00[ASN][1000 genomes]
rs6959542	1.00[ASN][1000 genomes]
rs71557210	1.00[ASN][1000 genomes]
rs73714203	0.86[AFR][1000 genomes]
rs73714210	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7636	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787389	1.00[ASN][1000 genomes]
rs7801190	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808329	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811415	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking 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 miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
10	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
13	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100473600-100486600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:100473800-100485600	Weak transcription	Right Atrium	heart
3	chr7:100474600-100482800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr7:100474600-100484400	Strong transcription	Placenta	Placenta
5	chr7:100474600-100484400	Strong transcription	Fetal Thymus	thymus
6	chr7:100474600-100484600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:100474600-100484800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr7:100474600-100485000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:100474600-100485800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:100474600-100486000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:100474800-100482800	Strong transcription	Fetal Intestine Small	intestine
12	chr7:100474800-100484000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:100474800-100484400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:100474800-100484600	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr7:100474800-100484800	Strong transcription	A549	lung
16	chr7:100474800-100485000	Strong transcription	Fetal Stomach	stomach
17	chr7:100474800-100485000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:100474800-100485600	Strong transcription	HSMM	muscle
19	chr7:100474800-100485800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:100474800-100485800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:100474800-100486000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:100475000-100483000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:100475000-100483000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr7:100475000-100484800	Strong transcription	Adipose Nuclei	Adipose
25	chr7:100475000-100485800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:100475200-100485400	Strong transcription	Fetal Intestine Large	intestine
27	chr7:100475200-100486000	Strong transcription	Ovary	ovary
28	chr7:100475400-100484800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:100475400-100484800	Strong transcription	Liver	Liver
30	chr7:100475600-100484600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr7:100475600-100484800	Strong transcription	Fetal Lung	lung
32	chr7:100475800-100486000	Strong transcription	NHLF	lung
33	chr7:100475800-100486200	Weak transcription	Fetal Brain Male	brain
34	chr7:100476000-100484200	Strong transcription	Fetal Muscle Leg	muscle
35	chr7:100476000-100484400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:100476000-100484800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:100476000-100484800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:100476000-100485200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr7:100476200-100485000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:100476200-100485000	Strong transcription	Thymus	Thymus
41	chr7:100476200-100485200	Strong transcription	NHEK	skin
42	chr7:100476400-100482600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:100476400-100483200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:100476400-100484600	Strong transcription	Hela-S3	cervix
45	chr7:100476400-100485400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:100476400-100485800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:100476400-100486000	Strong transcription	Osteobl	bone
48	chr7:100476600-100483600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr7:100476600-100484000	Strong transcription	HUVEC	blood vessel
50	chr7:100476600-100484600	Strong transcription	Duodenum Mucosa	Duodenum

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