Variant report

Variant	rs28382877
Chromosome Location	chr2:100056682-100056683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:100056660-100056710	PFSK-1	brain:	n/a
2	chr2:100056660-100056710	HEK293	kidney:	embryo
3	chr2:100056660-100056710	PrEC	prostate:	n/a
4	chr2:100056660-100056710	HRCEpiC	kidney:	n/a
5	chr2:100056660-100056710	ECC-1	luminal epithelium:	n/a
6	chr2:100056660-100056710	Jurkat	blood:	n/a
7	chr2:100056660-100056710	HL-60	blood:	n/a
8	chr2:100056660-100056710	RPTEC	kidney:	n/a
9	chr2:100056660-100056710	HIPEpiC	eye:	n/a
10	chr2:100056660-100056710	NHBE	bronchial:	n/a
11	chr2:100056660-100056710	AG04449	skin:	fetal
12	chr2:100056660-100056710	CMK	blood:	n/a
13	chr2:100056660-100056710	LNCaP	prostate:	n/a
14	chr2:100056660-100056710	MCF10A-Er-Src	breast:	n/a
15	chr2:100056660-100056710	GM12878	blood:	n/a
16	chr2:100056660-100056710	GM12892	blood:	n/a
17	chr2:100056660-100056710	HEEpiC	esophagus:	n/a
18	chr2:100056660-100056710	Caco-2	colon:	n/a
19	chr2:100056660-100056710	BE2_C	brain:	n/a
20	chr2:100056660-100056710	IMR90	lung:	fetal
21	chr2:100056660-100056710	HCM	heart:	n/a
22	chr2:100056660-100056710	NB4	blood:	n/a
23	chr2:100056660-100056710	AG10803	skin:	n/a
24	chr2:100056660-100056710	HepG2	liver:	n/a
25	chr2:100056660-100056710	AG09319	gingival:	n/a
26	chr2:100056660-100056710	AG09309	skin:	n/a
27	chr2:100056660-100056710	HRPEpiC	eye:	n/a
28	chr2:100056660-100056710	PANC-1	pancreas:	n/a
29	chr2:100056660-100056710	HPAEpiC	pulmonary alveolar:	n/a
30	chr2:100056660-100056710	U87	brain:	n/a
31	chr2:100056660-100056710	SK-N-SH_RA	brain:	n/a
32	chr2:100056660-100056710	HRE	kidney:	n/a
33	chr2:100056660-100056710	ProgFib	skin:	n/a
34	chr2:100056660-100056710	HMEC	breast:	n/a
35	chr2:100056660-100056710	GM19239	blood:	n/a
36	chr2:100056660-100056710	T-47D	breast:	n/a
37	chr2:100056660-100056710	Hepatocyte	liver:	n/a
38	chr2:100056660-100056710	AoSMC	blood vessel:	n/a
39	chr2:100056660-100056710	GM06990	blood:	n/a
40	chr2:100056660-100056710	SKMC	muscle:	n/a
41	chr2:100056660-100056710	HCPEpiC	choroid plexus:	n/a
42	chr2:100056660-100056710	K562	blood:	n/a
43	chr2:100056660-100056710	SAEC	small airway:	n/a
44	chr2:100056660-100056710	HCF	heart:	n/a
45	chr2:100056660-100056710	AG04450	lung:	fetal
46	chr2:100056660-100056710	MCF-7	breast:	n/a
47	chr2:100056660-100056710	HAEpiC	amniotic membrane:	n/a
48	chr2:100056660-100056710	HNPCEpiC	eye:	n/a
49	chr2:100056660-100056710	HUVEC	blood vessel:	n/a
50	chr2:100056660-100056710	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:100055571..100061199-chr2:100104819..100108042,8	MCF-7	breast:
2	chr2:99950527..99953056-chr2:100056612..100059511,2	K562	blood:
3	chr2:100056180..100057892-chr2:100105208..100108122,2	K562	blood:

No data

Variant related genes	Relation type
REV1	CpG island
ENSG00000135945	Chromatin interaction
ENSG00000115514	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11123773	0.84[EUR][1000 genomes]
rs12053237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382911	1.00[ASN][1000 genomes]
rs28382914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382936	1.00[ASN][1000 genomes]
rs28382959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382974	1.00[ASN][1000 genomes]
rs28382975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28745278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3197957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41280587	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73964149	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1014161	chr2:100021040-100063406	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr2:99999400-100056800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:100005800-100062600	Strong transcription	Dnd41	blood
3	chr2:100005800-100066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:100021200-100077800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:100022200-100059000	Strong transcription	Liver	Liver
7	chr2:100032600-100078000	Weak transcription	Psoas Muscle	Psoas
8	chr2:100034200-100088800	Weak transcription	Small Intestine	intestine
9	chr2:100036800-100074800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:100038200-100063200	Weak transcription	Fetal Intestine Small	intestine
11	chr2:100038200-100073800	Weak transcription	Esophagus	oesophagus
12	chr2:100041400-100077800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:100041600-100083400	Weak transcription	Brain Substantia Nigra	brain
14	chr2:100042800-100065000	Weak transcription	Lung	lung
15	chr2:100045000-100064200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:100045400-100068200	Weak transcription	Ovary	ovary
17	chr2:100047800-100063200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:100048200-100090600	Weak transcription	Stomach Mucosa	stomach
19	chr2:100048400-100067800	Weak transcription	Fetal Heart	heart
20	chr2:100048600-100064000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:100048600-100068200	Weak transcription	Spleen	Spleen
22	chr2:100048800-100070400	Weak transcription	Fetal Brain Female	brain
23	chr2:100050000-100065000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:100051800-100064600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:100052600-100059200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:100052800-100057800	Strong transcription	Adipose Nuclei	Adipose
27	chr2:100052800-100059000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:100052800-100059000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:100052800-100059200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:100053000-100058400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:100053000-100059600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:100053200-100059000	Strong transcription	Fetal Intestine Large	intestine
33	chr2:100053400-100058200	Strong transcription	Primary B cells from cord blood	blood
34	chr2:100053400-100059800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:100053600-100059200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:100053600-100059400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:100053600-100059600	Strong transcription	HepG2	liver
38	chr2:100053800-100059200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:100053800-100059200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:100053800-100075800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:100054400-100058400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:100054400-100059000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:100054400-100059600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr2:100054600-100056800	Strong transcription	NHDF-Ad	bronchial
45	chr2:100054600-100057400	Strong transcription	Hela-S3	cervix
46	chr2:100054600-100057800	Strong transcription	HUVEC	blood vessel
47	chr2:100054600-100059000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:100054600-100059000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:100054600-100059200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr2:100054600-100059200	Strong transcription	HSMM	muscle

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