Variant report

Variant	rs8176344
Chromosome Location	chr12:58159173-58159174
allele	C/G
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57852892..57855767-chr12:58158814..58160402,2	K562	blood:
2	chr12:57997150..58000080-chr12:58158932..58161067,2	MCF-7	breast:
3	chr12:58158495..58161066-chr12:58329095..58330993,2	K562	blood:
4	chr12:58156406..58160029-chr12:58238044..58241191,3	MCF-7	breast:
5	chr12:58156984..58159427-chr17:57858863..57860649,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP27B1-1	chr12:58159081-58159392	NONHSAT028965

No data

Variant related genes	Relation type
ENSG00000111087	Chromatin interaction
ENSG00000257698	Chromatin interaction
ENSG00000178498	Chromatin interaction
ENSG00000175215	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs3211607	1.00[AMR][1000 genomes]
rs3211614	1.00[AMR][1000 genomes]
rs3211618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3211627	1.00[AMR][1000 genomes]
rs4016098	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4447215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760321	1.00[ASN][1000 genomes]
rs4760322	1.00[AMR][1000 genomes]
rs4760323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760338	1.00[AMR][1000 genomes]
rs7307835	1.00[ASN][1000 genomes]
rs73338229	1.00[EUR][1000 genomes]
rs73338231	1.00[EUR][1000 genomes]
rs73338254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176339	1.00[AMR][1000 genomes]
rs8176346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
7	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58152200-58160000	Weak transcription	K562	blood
2	chr12:58154000-58162200	Weak transcription	Dnd41	blood
3	chr12:58154800-58160000	Weak transcription	Aorta	Aorta
4	chr12:58156800-58161400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:58157000-58162200	Weak transcription	Hela-S3	cervix
6	chr12:58157400-58159200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:58158000-58160800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
8	chr12:58158000-58161000	Flanking Active TSS	Pancreas	Pancrea
9	chr12:58158200-58159200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:58158200-58159600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr12:58158200-58160400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr12:58158200-58160800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:58158200-58160800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
14	chr12:58158200-58161000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:58158200-58161000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
16	chr12:58158200-58161400	Flanking Active TSS	HMEC	breast
17	chr12:58158400-58159200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:58158400-58159200	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:58158400-58159200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr12:58158400-58159200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
21	chr12:58158400-58159200	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
22	chr12:58158400-58159200	Enhancers	Spleen	Spleen
23	chr12:58158400-58159600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr12:58158400-58159600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
25	chr12:58158400-58159800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
26	chr12:58158400-58160000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
27	chr12:58158400-58160200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
28	chr12:58158400-58160400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:58158400-58160600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
30	chr12:58158400-58160600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr12:58158400-58160800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:58158400-58160800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
33	chr12:58158400-58160800	Flanking Active TSS	Right Ventricle	heart
34	chr12:58158400-58161000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:58158400-58161400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:58158600-58159200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:58158600-58159200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:58158600-58159200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
39	chr12:58158600-58159400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:58158600-58159400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
41	chr12:58158600-58159400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:58158600-58159400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:58158600-58159400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
44	chr12:58158600-58159400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
45	chr12:58158600-58159400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr12:58158600-58159400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr12:58158600-58159400	Flanking Active TSS	Gastric	stomach
48	chr12:58158600-58159400	Bivalent/Poised TSS	Osteobl	bone
49	chr12:58158600-58159600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:58158600-58159600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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