Variant report

Variant	rs2600924
Chromosome Location	chr12:42858029-42858030
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42857420..42859847-chr12:42876771..42878949,2	K562	blood:
2	chr12:42856522..42859149-chr12:42861270..42865700,4	K562	blood:
3	chr12:42853924..42855484-chr12:42857637..42859373,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139174	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1669933	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42816200-42858200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:42816800-42862400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:42820000-42858200	Weak transcription	Gastric	stomach
4	chr12:42826400-42859000	Weak transcription	Fetal Brain Male	brain
5	chr12:42826600-42858200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:42831800-42876400	Weak transcription	Psoas Muscle	Psoas
7	chr12:42834200-42859600	Weak transcription	Brain Substantia Nigra	brain
8	chr12:42836000-42875800	Weak transcription	Stomach Mucosa	stomach
9	chr12:42836800-42858800	Weak transcription	Brain Angular Gyrus	brain
10	chr12:42837000-42858200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:42837000-42868800	Weak transcription	Esophagus	oesophagus
12	chr12:42837200-42863200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:42840400-42860800	Weak transcription	Colonic Mucosa	Colon
14	chr12:42840600-42860000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:42840800-42858200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:42841000-42858600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:42841400-42862000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:42841600-42858400	Weak transcription	Fetal Brain Female	brain
19	chr12:42841600-42862400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:42843000-42862400	Weak transcription	Fetal Thymus	thymus
21	chr12:42843200-42858200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:42843200-42858200	Weak transcription	Pancreas	Pancrea
23	chr12:42843200-42862000	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:42843600-42862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:42844400-42858200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:42844800-42862600	Weak transcription	Primary T cells from cord blood	blood
27	chr12:42849400-42864800	Strong transcription	Fetal Stomach	stomach
28	chr12:42850000-42860800	Strong transcription	HSMMtube	muscle
29	chr12:42850000-42866400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:42850200-42859800	Strong transcription	Primary B cells from cord blood	blood
31	chr12:42850200-42860600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:42850200-42862800	Strong transcription	NH-A	brain
33	chr12:42850200-42865000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:42850200-42865000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:42850200-42865800	Strong transcription	Osteobl	bone
36	chr12:42850800-42860400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:42851400-42860800	Strong transcription	HSMM	muscle
38	chr12:42851800-42863000	Strong transcription	Fetal Muscle Leg	muscle
39	chr12:42852000-42861400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:42852600-42862400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:42852800-42862800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:42853000-42862000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:42853400-42858800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:42853400-42869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:42854000-42862400	Weak transcription	Brain Anterior Caudate	brain
46	chr12:42854000-42863600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:42854000-42865800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr12:42854000-42868600	Weak transcription	Right Ventricle	heart
49	chr12:42854200-42858200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:42854200-42865200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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