Variant report

Variant	rs534003559
Chromosome Location	chr12:123995504-123995505
allele	-/TGTGTGAGGTCTG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123990733..123992754-chr12:123992876..123995822,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNRNP35-2	chr12:123994929-123996488	NONHSAT031595

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv3325641	chr12:123993699-123998197	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3413875	chr12:123993699-123998797	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3409514	chr12:123993999-123999997	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
2	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
3	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
4	chr12:123957600-124003800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:123961600-123995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:123970000-124016400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:123979600-124000600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:123981800-124004000	Weak transcription	Psoas Muscle	Psoas
9	chr12:123982600-124001200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:123983400-123997200	Weak transcription	Liver	Liver
11	chr12:123983600-123995600	Weak transcription	NHDF-Ad	bronchial
12	chr12:123984000-123995600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:123991800-123995600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:123992600-124012800	Weak transcription	Thymus	Thymus
15	chr12:123993000-123995600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:123993400-123998400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr12:123993600-123999000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:123993600-124011200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:123994000-123995600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:123994000-123997400	Strong transcription	NHEK	skin
21	chr12:123994000-123998600	Strong transcription	Osteobl	bone
22	chr12:123994000-123999000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:123994200-123995600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:123994200-123995800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:123994200-123996600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:123994200-123997200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:123994200-123997400	Strong transcription	Fetal Brain Female	brain
28	chr12:123994200-123997600	Strong transcription	A549	lung
29	chr12:123994200-123997800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:123994200-123997800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:123994200-123997800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:123994200-123997800	Strong transcription	Brain Angular Gyrus	brain
33	chr12:123994200-123998000	Strong transcription	Fetal Intestine Small	intestine
34	chr12:123994200-123998600	Strong transcription	Brain Germinal Matrix	brain
35	chr12:123994200-123998800	Strong transcription	Brain Anterior Caudate	brain
36	chr12:123994200-123998800	Strong transcription	Brain Cingulate Gyrus	brain
37	chr12:123994200-123998800	Strong transcription	Brain Hippocampus Middle	brain
38	chr12:123994200-123998800	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr12:123994200-123998800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:123994200-123999600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:123994200-123999600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr12:123994400-123995600	Strong transcription	Spleen	Spleen
43	chr12:123994400-123996000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:123994400-123997800	Strong transcription	Ovary	ovary
45	chr12:123994400-123999200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:123994400-124016200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:123994600-123996800	Strong transcription	Esophagus	oesophagus
48	chr12:123994600-123997800	Strong transcription	Brain Substantia Nigra	brain
49	chr12:123994600-123998400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:123994600-124003800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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