Variant report

Variant	rs41435249
Chromosome Location	chr2:46927602-46927603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr2:46926377..46928977-chr2:47022030..47023631,2	K562	blood:
4	chr2:46926353..46928054-chr2:46945073..46946618,2	MCF-7	breast:

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

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction

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

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

rs_ID	r²[population]
rs10190841	0.81[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:116 , 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	chr2:46925000-46928400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:46925000-46930000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr2:46925200-46927800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:46925200-46928000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr2:46925200-46928200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:46925200-46928400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:46925200-46928400	Active TSS	Right Atrium	heart
10	chr2:46925200-46928400	Active TSS	Right Ventricle	heart
11	chr2:46925200-46928800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:46925200-46928800	Active TSS	Stomach Smooth Muscle	stomach
13	chr2:46925200-46929200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:46925400-46927800	Active TSS	Fetal Kidney	kidney
15	chr2:46925400-46927800	Active TSS	Psoas Muscle	Psoas
16	chr2:46925400-46928000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:46925400-46928000	Active TSS	Aorta	Aorta
18	chr2:46925400-46928200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:46925400-46928200	Active TSS	Colon Smooth Muscle	Colon
20	chr2:46925400-46928200	Active TSS	GM12878-XiMat	blood
21	chr2:46925400-46928400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr2:46925400-46928400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr2:46925400-46928400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:46925400-46928600	Active TSS	HSMMtube	muscle
25	chr2:46925400-46929200	Active TSS	Ovary	ovary
26	chr2:46925600-46927800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:46925600-46927800	Active TSS	Hela-S3	cervix
28	chr2:46925600-46928000	Active TSS	Fetal Stomach	stomach
29	chr2:46925600-46928400	Active TSS	H1 Cell Line	embryonic stem cell
30	chr2:46925600-46928400	Active TSS	A549	lung
31	chr2:46925600-46929200	Active TSS	NHDF-Ad	bronchial
32	chr2:46925600-46929400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:46925800-46927800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:46925800-46927800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:46925800-46928000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr2:46925800-46928000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:46925800-46928000	Active TSS	HSMM	muscle
38	chr2:46925800-46928600	Active TSS	NH-A	brain
39	chr2:46925800-46929200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr2:46925800-46929200	Active TSS	Osteobl	bone
41	chr2:46925800-46930200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:46925800-46930200	Active TSS	NHLF	lung
43	chr2:46926000-46927800	Active TSS	HMEC	breast
44	chr2:46926000-46928400	Active TSS	K562	blood
45	chr2:46926800-46927800	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr2:46926800-46927800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:46926800-46927800	Flanking Active TSS	Dnd41	blood
48	chr2:46926800-46927800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr2:46926800-46928000	Flanking Active TSS	Liver	Liver
50	chr2:46927000-46927800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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