Variant report

Variant	rs149750508
Chromosome Location	chr12:124115501-124115502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124112554..124115997-chr12:124116047..124118023,3	MCF-7	breast:
2	chr12:124090616..124092389-chr12:124114546..124116542,2	MCF-7	breast:
3	chr12:124109158..124110697-chr12:124113991..124116759,2	K562	blood:
4	chr12:124084988..124092992-chr12:124114351..124121638,14	K562	blood:
5	chr12:124115420..124119615-chr12:124195159..124199573,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111361	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000111364	Chromatin interaction

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	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
2	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
3	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
4	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1040356	chr12:124094758-124172731	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
8	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124088200-124116000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:124088200-124117000	Strong transcription	Fetal Stomach	stomach
3	chr12:124088400-124116000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:124088400-124116000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:124088400-124116000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:124088400-124116000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:124088400-124116000	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:124088400-124116200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:124088400-124116800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:124088400-124117000	Strong transcription	Fetal Intestine Small	intestine
11	chr12:124088600-124116000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:124088600-124116000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:124088600-124116000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:124088600-124116000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:124088600-124116000	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:124088600-124116000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:124088600-124116200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:124088600-124116200	Strong transcription	Fetal Thymus	thymus
19	chr12:124088600-124116800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:124088600-124116800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:124088600-124116800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr12:124088600-124117000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr12:124088800-124116000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:124088800-124116000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:124088800-124116000	Strong transcription	Fetal Intestine Large	intestine
26	chr12:124089000-124116000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:124089000-124116200	Strong transcription	Brain Germinal Matrix	brain
28	chr12:124089200-124116000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:124089200-124116000	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:124089200-124116000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:124089200-124116200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:124089200-124116400	Strong transcription	Liver	Liver
33	chr12:124089200-124116600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:124089600-124116000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:124089600-124116000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:124089600-124116000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr12:124089800-124116200	Strong transcription	Thymus	Thymus
38	chr12:124089800-124117000	Strong transcription	Placenta	Placenta
39	chr12:124090000-124115600	Strong transcription	GM12878-XiMat	blood
40	chr12:124090000-124116000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:124090000-124116000	Strong transcription	Primary B cells from cord blood	blood
42	chr12:124090000-124116000	Strong transcription	Primary T cells from cord blood	blood
43	chr12:124090200-124116000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:124090200-124116000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr12:124090200-124116000	Strong transcription	Rectal Smooth Muscle	rectum
46	chr12:124090200-124116200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:124090200-124116200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:124090200-124116200	Strong transcription	Brain Anterior Caudate	brain
49	chr12:124090200-124116800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:124090400-124116000	Strong transcription	Dnd41	blood

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