Variant report

Variant	rs34092154
Chromosome Location	chr2:46926684-46926685
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46925509..46928130-chr2:47135510..47137063,2	MCF-7	breast:
2	chr2:46926502..46928230-chr2:46967700..46969222,2	MCF-7	breast:
3	chr2:46926271..46927170-chr7:26240072..26240761,2	Hela-S3	cervix:
4	chr15:41047268..41048047-chr2:46926297..46927002,2	Hela-S3	cervix:
5	chr2:46926377..46928977-chr2:47022030..47023631,2	K562	blood:
6	chr2:46926353..46928054-chr2:46945073..46946618,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRIPT-4	chr2:46926519-46927680	ucscGeneNc_uc002rvj_1

No data

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000137824	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs41452946	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv3365634	chr2:46910377-46929000	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3460455	chr2:46910422-46928955	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3460454	chr2:46910435-46928955	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv3460456	chr2:46910436-46928951	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv3343605	chr2:46925273-46927821	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:46924600-46929200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:46924800-46928200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:46925000-46927200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr2:46925000-46927200	Active TSS	Duodenum Mucosa	Duodenum
5	chr2:46925000-46928400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:46925000-46930000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr2:46925200-46927000	Active TSS	Brain Substantia Nigra	brain
8	chr2:46925200-46927200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:46925200-46927200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:46925200-46927200	Active TSS	Brain Anterior Caudate	brain
11	chr2:46925200-46927200	Active TSS	Brain Germinal Matrix	brain
12	chr2:46925200-46927200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr2:46925200-46927200	Active TSS	Fetal Brain Female	brain
14	chr2:46925200-46927200	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr2:46925200-46927400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr2:46925200-46927400	Active TSS	Left Ventricle	heart
17	chr2:46925200-46927600	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr2:46925200-46927600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:46925200-46927600	Active TSS	Brain Cingulate Gyrus	brain
20	chr2:46925200-46927600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:46925200-46927800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr2:46925200-46928000	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr2:46925200-46928200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:46925200-46928400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:46925200-46928400	Active TSS	Right Atrium	heart
26	chr2:46925200-46928400	Active TSS	Right Ventricle	heart
27	chr2:46925200-46928800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr2:46925200-46928800	Active TSS	Stomach Smooth Muscle	stomach
29	chr2:46925200-46929200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:46925400-46927000	Active TSS	Primary T cells from cord blood	blood
31	chr2:46925400-46927000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr2:46925400-46927000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr2:46925400-46927000	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr2:46925400-46927200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:46925400-46927200	Active TSS	Fetal Intestine Large	intestine
36	chr2:46925400-46927400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr2:46925400-46927400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:46925400-46927400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:46925400-46927400	Active TSS	Brain Angular Gyrus	brain
40	chr2:46925400-46927400	Active TSS	Esophagus	oesophagus
41	chr2:46925400-46927400	Active TSS	Pancreas	Pancrea
42	chr2:46925400-46927600	Active TSS	Fetal Lung	lung
43	chr2:46925400-46927600	Active TSS	Rectal Smooth Muscle	rectum
44	chr2:46925400-46927600	Bivalent/Poised TSS	HepG2	liver
45	chr2:46925400-46927800	Active TSS	Fetal Kidney	kidney
46	chr2:46925400-46927800	Active TSS	Psoas Muscle	Psoas
47	chr2:46925400-46928000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:46925400-46928000	Active TSS	Aorta	Aorta
49	chr2:46925400-46928200	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr2:46925400-46928200	Active TSS	Colon Smooth Muscle	Colon

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