Variant report

Variant	rs544348128
Chromosome Location	chr12:104880835-104880836
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104878866..104881673-chr12:104885573..104889432,3	K562	blood:
2	chr12:104879669..104882101-chr12:104882975..104884643,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv868	chr12:104858964-104895572	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1042647	chr12:104861494-104888494	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3338893	chr12:104880122-104884520	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104866600-104882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:104869200-104899600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:104872600-104882400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:104872800-104883000	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:104872800-104887000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:104873000-104887600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:104873200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:104875000-104887000	Weak transcription	Placenta	Placenta
9	chr12:104875200-104882000	Weak transcription	Gastric	stomach
10	chr12:104875200-104882400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:104875200-104888000	Weak transcription	HMEC	breast
12	chr12:104875200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:104875200-104897000	Weak transcription	NHEK	skin
14	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:104877000-104882000	Weak transcription	Fetal Lung	lung
16	chr12:104877400-104881600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:104877800-104887000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:104878000-104885400	Enhancers	Primary hematopoietic stem cells	blood
19	chr12:104878000-104886000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:104878400-104882600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:104878600-104881200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr12:104878600-104882200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:104878600-104885000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:104879200-104881000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:104879200-104881400	Enhancers	Left Ventricle	heart
26	chr12:104879200-104881400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:104879400-104881000	Enhancers	Brain Substantia Nigra	brain
28	chr12:104879400-104881400	Enhancers	Fetal Muscle Leg	muscle
29	chr12:104879400-104881600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:104879400-104882000	Enhancers	Fetal Brain Male	brain
31	chr12:104879400-104882200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:104879400-104882600	Enhancers	Brain Anterior Caudate	brain
33	chr12:104879600-104881000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:104879600-104881000	Enhancers	NHDF-Ad	bronchial
35	chr12:104879600-104881200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:104879600-104882000	Enhancers	Brain Germinal Matrix	brain
37	chr12:104879600-104882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:104879600-104882600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr12:104879600-104882800	Enhancers	Pancreas	Pancrea
40	chr12:104879600-104893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:104879800-104881000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:104879800-104881000	Enhancers	Brain Hippocampus Middle	brain
43	chr12:104879800-104881000	Enhancers	Rectal Smooth Muscle	rectum
44	chr12:104879800-104881200	Enhancers	Brain Angular Gyrus	brain
45	chr12:104879800-104881200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr12:104879800-104881200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr12:104879800-104881400	Enhancers	Primary B cells from cord blood	blood
48	chr12:104879800-104881400	Enhancers	Colon Smooth Muscle	Colon
49	chr12:104879800-104882200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:104880000-104882000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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