Variant report

Variant	rs56665235
Chromosome Location	chr2:74057096-74057097
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74055755..74057848-chr2:74210321..74213795,3	MCF-7	breast:
2	chr2:74055980..74060254-chr2:74070607..74073353,3	MCF-7	breast:
3	chr2:74055452..74058450-chr2:74210942..74214913,3	K562	blood:
4	chr2:74056698..74058945-chr2:74079558..74081408,2	MCF-7	breast:
5	chr2:74003041..74008140-chr2:74055591..74058388,4	MCF-7	breast:
6	chr2:74056477..74058095-chr2:74392122..74393628,2	MCF-7	breast:
7	chr2:74055799..74057566-chr2:74228295..74229864,2	MCF-7	breast:
8	chr2:74055378..74057466-chr2:74084909..74087959,3	K562	blood:
9	chr2:74054992..74057413-chr2:74347412..74349314,2	K562	blood:
10	chr2:73962060..73965748-chr2:74053469..74057980,4	K562	blood:
11	chr2:74057033..74061162-chr2:74063972..74066162,5	K562	blood:
12	chr2:74056362..74058489-chr2:74217644..74219236,2	K562	blood:
13	chr2:74055188..74061210-chr2:74210942..74215230,5	K562	blood:
14	chr2:74055762..74057828-chr2:74374741..74376324,2	K562	blood:
15	chr2:74054362..74057947-chr2:74372650..74375089,3	MCF-7	breast:
16	chr2:74004444..74007409-chr2:74053786..74057952,3	K562	blood:
17	chr2:74054272..74058005-chr2:74424584..74427795,4	K562	blood:
18	chr2:74055393..74058315-chr2:74373246..74376437,5	K562	blood:
19	chr2:74052797..74060455-chr2:74207744..74214705,21	MCF-7	breast:
20	chr2:74054453..74058790-chr2:74226313..74230079,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237883	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000144034	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000124356	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	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12618950	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12623504	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13012471	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009399	1.00[ASN][1000 genomes]
rs17009404	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3738845	0.91[ASN][1000 genomes]
rs56875063	0.85[ASN][1000 genomes]
rs58787134	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59974236	0.85[ASN][1000 genomes]
rs60987687	0.88[ASN][1000 genomes]
rs61314551	0.85[ASN][1000 genomes]
rs72915479	0.97[AFR][1000 genomes];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]
rs7572565	1.00[ASN][1000 genomes]
rs7579755	0.88[ASN][1000 genomes]
rs7592693	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7609273	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs919629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74055200-74057200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:74055200-74058000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:74055400-74057200	Active TSS	NHDF-Ad	bronchial
4	chr2:74055400-74057200	Active TSS	NHLF	lung
5	chr2:74055400-74057400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:74055400-74057800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:74055600-74057200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:74055600-74057200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:74055600-74057200	Active TSS	Fetal Muscle Trunk	muscle
10	chr2:74055600-74057400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:74055600-74057400	Active TSS	GM12878-XiMat	blood
12	chr2:74055600-74057600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr2:74055600-74057600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:74055600-74057600	Active TSS	Fetal Kidney	kidney
15	chr2:74055600-74058000	Active TSS	Psoas Muscle	Psoas
16	chr2:74055800-74057200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr2:74056200-74057200	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr2:74056400-74057200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr2:74056400-74057200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr2:74056400-74057200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:74056400-74057200	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr2:74056400-74057200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr2:74056400-74057200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr2:74056400-74057200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr2:74056400-74057200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr2:74056400-74057600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:74056400-74058200	Flanking Active TSS	NH-A	brain
28	chr2:74056600-74057200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:74056600-74057200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:74056600-74057200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr2:74056600-74057200	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr2:74056600-74057200	Flanking Active TSS	Fetal Brain Male	brain
33	chr2:74056600-74057200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:74056600-74057200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:74056600-74057200	Flanking Active TSS	HSMMtube	muscle
36	chr2:74056600-74057400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:74056600-74057400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:74056600-74057400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:74056600-74057400	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr2:74056600-74057400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr2:74056600-74057400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr2:74056600-74057600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:74056600-74057600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr2:74056600-74057600	Flanking Active TSS	Osteobl	bone
45	chr2:74056600-74057800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:74056600-74057800	Flanking Active TSS	Dnd41	blood
47	chr2:74056600-74058200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr2:74056800-74057200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr2:74056800-74057200	Enhancers	Primary B cells from peripheral blood	blood
50	chr2:74056800-74057200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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