Variant report

Variant	rs57152574
Chromosome Location	chr2:101179991-101179992
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:101033038..101035627-chr2:101178228..101182939,5	K562	blood:
2	chr2:101177750..101180702-chr2:101616968..101620230,4	MCF-7	breast:
3	chr2:101032545..101035627-chr2:101179557..101182939,4	K562	blood:
4	chr2:101179725..101181553-chr2:101183212..101186603,3	K562	blood:
5	chr2:101177993..101180966-chr2:101192692..101194735,2	K562	blood:
6	chr2:101041152..101044058-chr2:101179314..101180934,2	K562	blood:
7	chr2:101177732..101180772-chr2:101616573..101620250,3	K562	blood:
8	chr2:101178645..101181337-chr2:101184679..101187696,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238328	Chromatin interaction
ENSG00000115526	Chromatin interaction
ENSG00000238029	Chromatin interaction
ENSG00000115539	Chromatin interaction
ENSG00000071082	Chromatin interaction
ENSG00000223947	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12613930	0.88[AMR][1000 genomes]
rs2309849	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3748929	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56242838	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61387584	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6716167	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6730933	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr2:101178400-101180200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:101178400-101180200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:101178400-101180200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:101178400-101180200	Active TSS	Fetal Brain Male	brain
5	chr2:101178400-101180200	Active TSS	Fetal Intestine Large	intestine
6	chr2:101178400-101180200	Active TSS	Fetal Stomach	stomach
7	chr2:101178400-101180400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr2:101178400-101180400	Active TSS	Rectal Smooth Muscle	rectum
9	chr2:101178400-101180600	Active TSS	Fetal Brain Female	brain
10	chr2:101178400-101180600	Active TSS	Osteobl	bone
11	chr2:101178400-101180800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:101178400-101180800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:101178600-101180000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:101178600-101180200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr2:101178600-101180200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr2:101178600-101180200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:101178600-101180200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:101178600-101180200	Active TSS	Colonic Mucosa	Colon
19	chr2:101178600-101180200	Active TSS	Fetal Intestine Small	intestine
20	chr2:101178600-101180200	Active TSS	Fetal Lung	lung
21	chr2:101178600-101180200	Active TSS	HMEC	breast
22	chr2:101178600-101180400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr2:101178600-101180400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:101178600-101180400	Active TSS	Fetal Kidney	kidney
25	chr2:101178600-101180400	Active TSS	Left Ventricle	heart
26	chr2:101178600-101180400	Active TSS	Right Atrium	heart
27	chr2:101178600-101180400	Active TSS	HSMMtube	muscle
28	chr2:101178600-101180400	Active TSS	NHEK	skin
29	chr2:101178600-101180600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr2:101178600-101180600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:101178600-101180600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:101178600-101180600	Active TSS	HSMM	muscle
33	chr2:101178600-101180600	Active TSS	NHLF	lung
34	chr2:101178800-101180000	Active TSS	Primary T cells from cord blood	blood
35	chr2:101178800-101180000	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr2:101178800-101180000	Active TSS	Fetal Muscle Trunk	muscle
37	chr2:101178800-101180000	Active TSS	Fetal Thymus	thymus
38	chr2:101178800-101180000	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr2:101178800-101180200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:101178800-101180200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:101178800-101180200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:101178800-101180200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:101178800-101180200	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr2:101178800-101180200	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr2:101178800-101180200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:101178800-101180200	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr2:101178800-101180200	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr2:101178800-101180200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr2:101178800-101180200	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr2:101178800-101180200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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