Variant report

Variant	rs193041987
Chromosome Location	chr12:50445215-50445216
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50442392..50444531-chr12:50445010..50447664,2	K562	blood:
2	chr12:50440879..50447724-chr12:50448390..50454714,11	K562	blood:
3	chr12:50445040..50447038-chr12:50470229..50471817,2	K562	blood:
4	chr12:50367042..50370413-chr12:50441830..50446012,4	K562	blood:
5	chr12:50444648..50446758-chr12:50452831..50455607,2	K562	blood:
6	chr12:50443166..50446140-chr12:50448387..50451467,3	K562	blood:
7	chr12:50431093..50436094-chr12:50443171..50446761,5	K562	blood:

Variant related genes	Relation type
ENSG00000110881	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	117 gene(s)	inside rSNPs	diseases
4	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	esv3324153	chr12:50443735-50446133	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50443000-50447200	Enhancers	Fetal Brain Male	brain
2	chr12:50443400-50445400	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr12:50443400-50445800	Enhancers	Placenta	Placenta
4	chr12:50443800-50445400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr12:50444000-50445400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr12:50444000-50445400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:50444000-50445600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:50444000-50445600	Bivalent Enhancer	Primary B cells from cord blood	blood
9	chr12:50444000-50446200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:50444200-50445400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:50444200-50445800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:50444400-50445600	Enhancers	Fetal Heart	heart
13	chr12:50444400-50445800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:50444400-50446000	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:50444400-50449600	Weak transcription	Brain Angular Gyrus	brain
16	chr12:50444400-50449600	Weak transcription	Gastric	stomach
17	chr12:50444400-50449600	Weak transcription	Spleen	Spleen
18	chr12:50444400-50450800	Weak transcription	Lung	lung
19	chr12:50444600-50445400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:50444600-50445400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr12:50444600-50445400	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr12:50444600-50445400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr12:50444600-50445400	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr12:50444600-50445400	Bivalent Enhancer	Fetal Stomach	stomach
25	chr12:50444600-50445400	Enhancers	K562	blood
26	chr12:50444600-50445600	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr12:50444600-50445800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
28	chr12:50444600-50446000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:50444600-50449400	Weak transcription	Brain Anterior Caudate	brain
30	chr12:50444600-50449600	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:50444600-50449600	Weak transcription	Brain Substantia Nigra	brain
32	chr12:50444600-50449600	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:50444600-50449600	Weak transcription	Pancreas	Pancrea
34	chr12:50444800-50445400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr12:50444800-50445400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:50444800-50445400	Enhancers	Right Ventricle	heart
37	chr12:50444800-50445600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:50444800-50447800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:50444800-50450800	Weak transcription	Right Atrium	heart
40	chr12:50445000-50445400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr12:50445000-50445400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr12:50445000-50445400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:50445000-50445400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:50445000-50445400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:50445000-50445600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:50445000-50445600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr12:50445000-50445800	Bivalent Enhancer	Stomach Mucosa	stomach
48	chr12:50445200-50445400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
49	chr12:50445200-50445400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr12:50445200-50445400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell

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