Variant report

Variant	rs185514765
Chromosome Location	chr12:124500069-124500070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124492436..124495836-chr12:124497804..124500865,3	K562	blood:
2	chr12:124196789..124198496-chr12:124499802..124501638,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185344	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv820508	chr12:124495436-124500803	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv826535	chr12:124495436-124500803	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv975536	chr12:124496139-124500626	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv899580	chr12:124499542-124565258	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124489200-124510400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:124490400-124500400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:124493000-124500200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:124493000-124501400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:124493000-124501600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:124493000-124503200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:124493200-124501200	Strong transcription	Fetal Stomach	stomach
8	chr12:124493600-124503200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:124493600-124505400	Weak transcription	Right Atrium	heart
10	chr12:124494200-124500600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:124494400-124500400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:124495000-124500200	Strong transcription	HSMM	muscle
13	chr12:124495000-124500400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:124495000-124500600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:124495000-124500800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr12:124495200-124500200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:124495600-124500600	Strong transcription	Fetal Thymus	thymus
18	chr12:124496200-124500600	Strong transcription	Thymus	Thymus
19	chr12:124497400-124504600	Weak transcription	Small Intestine	intestine
20	chr12:124497400-124508800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:124497400-124509000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:124497800-124502800	Weak transcription	Brain Substantia Nigra	brain
23	chr12:124497800-124502800	Weak transcription	NHDF-Ad	bronchial
24	chr12:124497800-124505400	Weak transcription	Ovary	ovary
25	chr12:124497800-124505400	Weak transcription	Pancreas	Pancrea
26	chr12:124497800-124506600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:124497800-124508400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:124497800-124508800	Weak transcription	HMEC	breast
29	chr12:124497800-124508800	Weak transcription	NHEK	skin
30	chr12:124497800-124511000	Weak transcription	Psoas Muscle	Psoas
31	chr12:124497800-124511200	Weak transcription	Fetal Brain Male	brain
32	chr12:124497800-124511400	Weak transcription	Gastric	stomach
33	chr12:124497800-124511600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:124498000-124500800	Weak transcription	K562	blood
35	chr12:124498000-124501000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:124498000-124501600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:124498000-124501800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:124498000-124502000	Weak transcription	HepG2	liver
39	chr12:124498000-124502400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:124498000-124508800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:124498000-124508800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:124498000-124509000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:124498000-124510800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:124498000-124511000	Weak transcription	HUVEC	blood vessel
45	chr12:124498200-124505200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:124498200-124508600	Weak transcription	HSMMtube	muscle
47	chr12:124498200-124510800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:124498400-124500200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:124498400-124500800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:124498400-124502000	Weak transcription	Dnd41	blood

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