Variant report

Variant	rs7591519
Chromosome Location	chr2:99772395-99772396
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	chr2:99770521-99772535	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:99770891-99772472	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:99770271-99772617	K562	blood:	n/a	n/a
4	POLR2A	chr2:99770989-99772526	K562	blood:	n/a	n/a
5	POLR2A	chr2:99770535-99772543	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:99769530-99772432	PBDE	blood:	n/a	n/a
7	POLR2A	chr2:99770872-99772445	GM18505	blood:	n/a	n/a
8	POLR2A	chr2:99770887-99772588	GM12878	blood:	n/a	n/a
9	MYC	chr2:99771137-99772793	A549	lung:	n/a	chr2:99771561-99771570
10	MAZ	chr2:99770622-99772423	IMR90	lung:	n/a	chr2:99771561-99771570
11	POLR2A	chr2:99770820-99772575	GM12878	blood:	n/a	n/a
12	MXI1	chr2:99770301-99772778	SK-N-SH	brain:	n/a	n/a
13	MYC	chr2:99770667-99772551	K562	blood:	n/a	chr2:99771561-99771570
14	MYC	chr2:99770960-99772434	K562	blood:	n/a	chr2:99771561-99771570
15	POLR2A	chr2:99771217-99772403	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:99770967-99772467	GM12878	blood:	n/a	n/a
17	IRF1	chr2:99771142-99772630	K562	blood:	n/a	chr2:99771931-99771944 chr2:99771931-99771944 chr2:99771931-99771945 chr2:99771926-99771943 chr2:99771934-99771948 chr2:99771931-99771942 chr2:99772514-99772524 chr2:99771932-99771946 chr2:99771936-99771947 chr2:99772513-99772524 chr2:99772514-99772528 chr2:99771930-99771950 chr2:99771931-99771944 chr2:99772510-99772524
18	POLR2A	chr2:99770642-99772544	GM12892	blood:	n/a	n/a
19	RCOR1	chr2:99770694-99772544	K562	blood:	n/a	n/a
20	POLR2A	chr2:99772388-99772408	ProgFib	skin:	n/a	n/a
21	POLR2A	chr2:99771058-99772451	GM19099	blood:	n/a	n/a
22	HEY1	chr2:99771007-99772514	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:99770091-99772586	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr2:99770840-99772419	K562	blood:	n/a	n/a
25	POLR2A	chr2:99770458-99772428	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:99771049-99772574	K562	blood:	n/a	n/a
27	POLR2A	chr2:99770829-99772467	GM12878	blood:	n/a	n/a
28	MXI1	chr2:99770453-99772599	IMR90	lung:	n/a	n/a
29	CUX1	chr2:99771909-99772573	GM12878	blood:	n/a	n/a
30	POLR2A	chr2:99771014-99772438	HepG2	liver:	n/a	n/a
31	MTA3	chr2:99771013-99772401	GM12878	blood:	n/a	n/a
32	IRF1	chr2:99771045-99772427	K562	blood:	n/a	chr2:99771931-99771944 chr2:99771931-99771944 chr2:99771931-99771945 chr2:99771926-99771943 chr2:99771934-99771948 chr2:99771931-99771942 chr2:99771932-99771946 chr2:99771936-99771947 chr2:99771930-99771950 chr2:99771931-99771944
33	TBL1XR1	chr2:99770755-99772603	K562	blood:	n/a	n/a
34	POLR2A	chr2:99770988-99772548	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr2:99770586-99772693	GM12891	blood:	n/a	n/a
36	POLR2A	chr2:99770348-99772495	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr2:99771101-99772619	K562	blood:	n/a	n/a
38	POLR2A	chr2:99772244-99772483	K562	blood:	n/a	n/a
39	HCFC1	chr2:99770001-99772528	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99754528..99760418-chr2:99769364..99773305,11	K562	blood:
2	chr2:99767297..99778137-chr2:99793643..99800044,16	MCF-7	breast:
3	chr2:99769587..99774574-chr2:99795787..99799597,12	MCF-7	breast:
4	chr2:99769803..99772533-chr2:99952128..99954259,2	MCF-7	breast:
5	chr2:99756639..99759461-chr2:99768691..99772730,10	MCF-7	breast:
6	chr2:99769128..99773388-chr2:99951603..99955259,4	K562	blood:
7	chr2:99768084..99772423-chr2:99795960..99799744,7	K562	blood:
8	chr2:99767233..99772869-chr2:99793831..99799744,8	K562	blood:
9	chr2:99770250..99773199-chr2:99783967..99787710,4	MCF-7	breast:
10	chr2:99770887..99773276-chr2:99955255..99957900,2	MCF-7	breast:
11	chr2:99769755..99772454-chr2:99953389..99955420,3	K562	blood:
12	chr2:99755030..99760884-chr2:99769021..99772906,10	K562	blood:

Variant related genes	Relation type
TSGA10	TF binding region
ENSG00000115514	Chromatin interaction
ENSG00000158417	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000273045	Chromatin interaction
ENSG00000241962	Chromatin interaction
ENSG00000135951	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10176788	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10201856	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13428547	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1013507	chr2:99729047-99861692	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv535839	chr2:99742621-99793747	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99770200-99772600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:99770400-99772400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:99770400-99772400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:99770400-99772400	Active TSS	Left Ventricle	heart
5	chr2:99770400-99772600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:99770400-99772600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:99770400-99772600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:99770400-99772600	Active TSS	NHLF	lung
9	chr2:99770600-99772400	Active TSS	NHDF-Ad	bronchial
10	chr2:99770600-99772600	Active TSS	Fetal Muscle Trunk	muscle
11	chr2:99770600-99772600	Active TSS	HSMMtube	muscle
12	chr2:99770800-99772400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:99770800-99772400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:99770800-99772400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:99770800-99772400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:99770800-99772400	Active TSS	Pancreas	Pancrea
17	chr2:99770800-99772600	Active TSS	Fetal Intestine Large	intestine
18	chr2:99770800-99772600	Active TSS	Ovary	ovary
19	chr2:99770800-99772600	Active TSS	Right Atrium	heart
20	chr2:99770800-99772800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:99770800-99772800	Active TSS	Brain Hippocampus Middle	brain
22	chr2:99770800-99772800	Active TSS	A549	lung
23	chr2:99771000-99772400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr2:99771000-99772400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:99771000-99772400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr2:99771000-99772400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:99771000-99772400	Active TSS	Esophagus	oesophagus
28	chr2:99771000-99772400	Active TSS	Fetal Intestine Small	intestine
29	chr2:99771000-99772400	Active TSS	Stomach Mucosa	stomach
30	chr2:99771000-99772400	Active TSS	GM12878-XiMat	blood
31	chr2:99771000-99772400	Active TSS	NHEK	skin
32	chr2:99771000-99772600	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr2:99771000-99772600	Active TSS	Fetal Kidney	kidney
34	chr2:99771000-99772600	Active TSS	Thymus	Thymus
35	chr2:99771000-99772800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr2:99771000-99772800	Active TSS	Stomach Smooth Muscle	stomach
37	chr2:99771200-99772400	Active TSS	H1 Cell Line	embryonic stem cell
38	chr2:99771200-99772400	Active TSS	Lung	lung
39	chr2:99771200-99772400	Active TSS	HSMM	muscle
40	chr2:99771200-99772800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:99771800-99772400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr2:99771800-99772400	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr2:99771800-99772600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr2:99771800-99772800	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr2:99772000-99772400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr2:99772000-99772400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:99772000-99772400	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr2:99772000-99772400	Flanking Active TSS	Fetal Thymus	thymus
49	chr2:99772000-99772400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr2:99772000-99772600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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