Variant report

Variant	rs7572565
Chromosome Location	chr2:74055534-74055535
allele	A/T
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	HCFC1	chr2:74055240-74057145	Hela-S3	cervix:	n/a	n/a
2	YY1	chr2:74055514-74056282	SK-N-SH	brain:	n/a	chr2:74055922-74055944 chr2:74055935-74055943 chr2:74055927-74055946 chr2:74055933-74055941 chr2:74055934-74055944
3	YY1	chr2:74055413-74056218	GM12878	blood:	n/a	chr2:74055922-74055944 chr2:74055935-74055943 chr2:74055927-74055946 chr2:74055933-74055941 chr2:74055934-74055944
4	YY1	chr2:74055496-74056218	HepG2	liver:	n/a	chr2:74055922-74055944 chr2:74055935-74055943 chr2:74055927-74055946 chr2:74055933-74055941 chr2:74055934-74055944
5	MXI1	chr2:74055304-74057358	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr2:74054105-74055554	A549	lung:	n/a	chr2:74054555-74054563
7	YY1	chr2:74055377-74056277	SK-N-SH_RA	brain:	n/a	chr2:74055922-74055944 chr2:74055935-74055943 chr2:74055927-74055946 chr2:74055933-74055941 chr2:74055934-74055944
8	YY1	chr2:74055518-74056259	H1-hESC	embryonic stem cell:	n/a	chr2:74055922-74055944 chr2:74055935-74055943 chr2:74055927-74055946 chr2:74055933-74055941 chr2:74055934-74055944
9	ELF1	chr2:74055518-74056772	MCF-7	breast:	n/a	n/a
10	YY1	chr2:74055414-74056256	A549	lung:	n/a	chr2:74055922-74055944 chr2:74055935-74055943 chr2:74055927-74055946 chr2:74055933-74055941 chr2:74055934-74055944
11	YY1	chr2:74055461-74056263	SK-N-SH_RA	brain:	n/a	chr2:74055922-74055944 chr2:74055935-74055943 chr2:74055927-74055946 chr2:74055933-74055941 chr2:74055934-74055944
12	YY1	chr2:74055359-74056552	A549	lung:	n/a	chr2:74055922-74055944 chr2:74055935-74055943 chr2:74055927-74055946 chr2:74055933-74055941 chr2:74055934-74055944
13	GABPA	chr2:74055461-74056916	MCF-7	breast:	n/a	chr2:74056070-74056079
14	YY1	chr2:74055515-74056556	SK-N-SH	brain:	n/a	chr2:74055922-74055944 chr2:74055935-74055943 chr2:74055927-74055946 chr2:74055933-74055941 chr2:74055934-74055944
15	YY1	chr2:74055387-74056423	K562	blood:	n/a	chr2:74055922-74055944 chr2:74055935-74055943 chr2:74055927-74055946 chr2:74055933-74055941 chr2:74055934-74055944
16	SIX5	chr2:74055534-74056687	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:74055452..74058450-chr2:74210942..74214913,3	K562	blood:
2	chr2:74055378..74057466-chr2:74084909..74087959,3	K562	blood:
3	chr2:74054992..74057413-chr2:74347412..74349314,2	K562	blood:
4	chr2:74053720..74055636-chr2:74377431..74379378,2	MCF-7	breast:
5	chr2:73962060..73965748-chr2:74053469..74057980,4	K562	blood:
6	chr2:74055188..74061210-chr2:74210942..74215230,5	K562	blood:
7	chr2:74054362..74057947-chr2:74372650..74375089,3	MCF-7	breast:
8	chr2:74004444..74007409-chr2:74053786..74057952,3	K562	blood:
9	chr2:74054272..74058005-chr2:74424584..74427795,4	K562	blood:
10	chr2:74055393..74058315-chr2:74373246..74376437,5	K562	blood:
11	chr2:74052797..74060455-chr2:74207744..74214705,21	MCF-7	breast:
12	chr2:74054349..74056665-chr2:74153840..74155868,2	K562	blood:
13	chr2:74053154..74055728-chr2:74152943..74154610,2	MCF-7	breast:
14	chr2:74054453..74058790-chr2:74226313..74230079,4	MCF-7	breast:

Variant related genes	Relation type
STAMBP	TF binding region
ENSG00000255989	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000144034	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000237883	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10167667	0.88[ASN][1000 genomes]
rs10202343	0.88[ASN][1000 genomes]
rs1055888	0.88[ASN][1000 genomes]
rs11126419	0.91[ASN][1000 genomes]
rs11897051	0.88[ASN][1000 genomes]
rs12614068	0.97[ASN][1000 genomes]
rs12618950	0.97[ASN][1000 genomes]
rs12623504	0.97[ASN][1000 genomes]
rs13012471	0.94[ASN][1000 genomes]
rs13414927	0.88[ASN][1000 genomes]
rs13418993	0.88[ASN][1000 genomes]
rs13419314	0.88[ASN][1000 genomes]
rs13432600	0.88[ASN][1000 genomes]
rs17009396	1.00[ASN][1000 genomes]
rs17009399	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009404	0.94[ASN][1000 genomes]
rs3738845	0.91[ASN][1000 genomes]
rs56665235	1.00[ASN][1000 genomes]
rs56875063	0.85[ASN][1000 genomes]
rs58787134	0.97[ASN][1000 genomes]
rs59974236	0.85[ASN][1000 genomes]
rs60987687	0.88[ASN][1000 genomes]
rs61314551	0.85[ASN][1000 genomes]
rs72915479	1.00[ASN][1000 genomes]
rs72917405	0.88[ASN][1000 genomes]
rs72917409	0.91[ASN][1000 genomes]
rs72917413	0.91[ASN][1000 genomes]
rs72917415	0.88[ASN][1000 genomes]
rs72917417	0.88[ASN][1000 genomes]
rs72917422	0.88[ASN][1000 genomes]
rs7579755	0.88[ASN][1000 genomes]
rs7592693	0.94[ASN][1000 genomes]
rs7609273	0.97[ASN][1000 genomes]
rs919629	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription 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 target site	33 gene(s)	inside rSNPs	diseases
4	nsv2780	chr2:73994168-74057248	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74054600-74055600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:74054600-74055800	Flanking Active TSS	Dnd41	blood
3	chr2:74055000-74055800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:74055200-74055600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:74055200-74055600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:74055200-74055600	Flanking Active TSS	Brain Hippocampus Middle	brain
7	chr2:74055200-74055600	Enhancers	Placenta	Placenta
8	chr2:74055200-74055600	Enhancers	Stomach Mucosa	stomach
9	chr2:74055200-74055600	Flanking Active TSS	GM12878-XiMat	blood
10	chr2:74055200-74055800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr2:74055200-74055800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr2:74055200-74055800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr2:74055200-74055800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr2:74055200-74055800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr2:74055200-74055800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:74055200-74055800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr2:74055200-74055800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr2:74055200-74055800	Flanking Active TSS	Liver	Liver
19	chr2:74055200-74055800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr2:74055200-74055800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr2:74055200-74055800	Flanking Active TSS	HepG2	liver
22	chr2:74055200-74056000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr2:74055200-74056000	Enhancers	Spleen	Spleen
24	chr2:74055200-74056800	Active TSS	Hela-S3	cervix
25	chr2:74055200-74057000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:74055200-74057000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr2:74055200-74057000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr2:74055200-74057000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:74055200-74057000	Active TSS	K562	blood
30	chr2:74055200-74057200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr2:74055200-74058000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:74055400-74055600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:74055400-74055600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:74055400-74055600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr2:74055400-74055600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:74055400-74055600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:74055400-74055600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr2:74055400-74055600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:74055400-74055600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:74055400-74055600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:74055400-74055600	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr2:74055400-74055600	Enhancers	Brain Germinal Matrix	brain
43	chr2:74055400-74055600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr2:74055400-74055600	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr2:74055400-74055600	Flanking Active TSS	Colonic Mucosa	Colon
46	chr2:74055400-74055600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:74055400-74055600	Flanking Active TSS	Fetal Brain Female	brain
48	chr2:74055400-74055600	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr2:74055400-74055600	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr2:74055400-74055600	Flanking Active TSS	Fetal Muscle Leg	muscle

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