Variant report

Variant	rs144309680
Chromosome Location	chr12:104969870-104969871
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104962294..104965284-chr12:104969742..104971271,2	K562	blood:
2	chr12:104963784..104965838-chr12:104968298..104971242,2	K562	blood:
3	chr12:104969237..104970979-chr12:104994283..104996065,2	MCF-7	breast:

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	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
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	esv3505351	chr12:104969025-104970732	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3504045	chr12:104969107-104970720	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3412280	chr12:104969110-104970743	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3504046	chr12:104969166-104970703	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3505362	chr12:104969166-104970703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3324510	chr12:104969183-104970784	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104950000-104978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:104958400-104972400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:104960600-104970600	Weak transcription	Right Atrium	heart
4	chr12:104961800-104972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:104962400-104971200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:104963400-104974800	Weak transcription	Gastric	stomach
7	chr12:104964200-104970600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:104964200-104974800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:104964200-104976000	Weak transcription	Primary T cells from cord blood	blood
10	chr12:104964400-104972800	Weak transcription	Spleen	Spleen
11	chr12:104964800-104970600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:104965200-104975400	Weak transcription	Placenta	Placenta
13	chr12:104965400-104970000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:104965400-104970600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:104965400-104971600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:104965400-104971600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:104965400-104982200	Weak transcription	Left Ventricle	heart
18	chr12:104965600-104970000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:104965600-104970000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:104967400-104970000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:104968800-104970000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:104968800-104970400	Genic enhancers	Fetal Thymus	thymus
23	chr12:104968800-104970400	Enhancers	K562	blood
24	chr12:104968800-104970600	Enhancers	Primary B cells from cord blood	blood
25	chr12:104968800-104971000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:104968800-104971000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr12:104968800-104971200	Enhancers	Osteobl	bone
28	chr12:104968800-104971400	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:104968800-104974200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr12:104968800-104977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:104968800-104977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:104969000-104970000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:104969000-104971000	Enhancers	Lung	lung
34	chr12:104969000-104971200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:104969000-104971600	Enhancers	Primary hematopoietic stem cells	blood
36	chr12:104969000-104973400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr12:104969000-104977400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:104969000-104978000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:104969200-104970400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:104969200-104970400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:104969200-104970400	Weak transcription	NH-A	brain
42	chr12:104969200-104970600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:104969200-104971200	Enhancers	HSMMtube	muscle
44	chr12:104969200-104972600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:104969400-104970400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:104969400-104970400	Weak transcription	A549	lung
47	chr12:104969400-104970600	Weak transcription	HSMM	muscle
48	chr12:104969400-104971200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:104969600-104970600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:104969600-104970800	Genic enhancers	Dnd41	blood

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