Variant report

Variant	rs12463949
Chromosome Location	chr2:128235322-128235323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128234838..128236563-chr2:128251680..128254219,2	K562	blood:
2	chr2:128229637..128231689-chr2:128234844..128236876,2	MCF-7	breast:
3	chr2:128234838..128237343-chr2:128250222..128254219,3	K562	blood:

Variant related genes	Relation type
ENSG00000202429	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10432384	0.86[ASN][1000 genomes]
rs11694581	0.96[ASN][1000 genomes]
rs12466957	0.90[ASN][1000 genomes]
rs12475191	0.88[ASN][1000 genomes]
rs12475389	0.88[ASN][1000 genomes]
rs12476558	0.90[ASN][1000 genomes]
rs13026187	0.86[ASN][1000 genomes]
rs2303947	0.85[ASN][1000 genomes]
rs3732207	0.96[ASN][1000 genomes]
rs4662733	0.90[ASN][1000 genomes]
rs7590705	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128206200-128237800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:128208400-128238800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:128209000-128238000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:128209200-128237600	Weak transcription	Adipose Nuclei	Adipose
5	chr2:128210000-128237600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:128210200-128238000	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:128211600-128237600	Weak transcription	Right Ventricle	heart
8	chr2:128213000-128237600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:128213200-128237800	Weak transcription	Colonic Mucosa	Colon
10	chr2:128213400-128237800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:128213600-128237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:128213600-128237800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:128213800-128238000	Weak transcription	Brain Germinal Matrix	brain
14	chr2:128219800-128237600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:128220400-128239800	Weak transcription	Fetal Lung	lung
16	chr2:128221600-128237400	Weak transcription	HSMM	muscle
17	chr2:128221600-128237600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:128222200-128237800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:128222400-128237600	Weak transcription	Osteobl	bone
20	chr2:128222400-128237800	Weak transcription	Fetal Brain Female	brain
21	chr2:128222600-128237000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:128222600-128237200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:128222800-128237600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:128222800-128237800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:128222800-128239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:128223000-128237600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:128223200-128237000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:128223200-128237000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:128223200-128237600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:128223200-128237600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:128223200-128237800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:128223200-128237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:128223400-128237000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:128223600-128268800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:128223800-128238400	Weak transcription	K562	blood
36	chr2:128224000-128241800	Weak transcription	Small Intestine	intestine
37	chr2:128224600-128237800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:128224800-128237600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:128226200-128244000	Weak transcription	Psoas Muscle	Psoas
40	chr2:128227400-128237800	Weak transcription	Primary B cells from cord blood	blood
41	chr2:128227400-128237800	Weak transcription	A549	lung
42	chr2:128227400-128238800	Weak transcription	Ovary	ovary
43	chr2:128227600-128236400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:128227600-128237400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:128227600-128237600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:128227600-128237600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:128227600-128237600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:128227600-128237600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:128227600-128237600	Weak transcription	Esophagus	oesophagus
50	chr2:128227600-128237600	Weak transcription	Gastric	stomach

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