Variant report

Variant	rs7486949
Chromosome Location	chr12:122978407-122978408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122867510..122870317-chr12:122976992..122978629,2	K562	blood:
2	chr12:122974949..122980917-chr12:122982980..122986294,6	MCF-7	breast:
3	chr12:122884287..122886511-chr12:122976767..122978774,2	K562	blood:

Variant related genes	Relation type
ENSG00000033030	Chromatin interaction
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10744242	0.85[EUR][1000 genomes]
rs10773230	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10846968	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10846993	0.98[ASN][1000 genomes]
rs10847090	0.89[EUR][1000 genomes]
rs11058272	0.81[ASN][1000 genomes]
rs11058362	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11058398	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11610303	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11615830	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12371048	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12817342	0.96[ASN][1000 genomes]
rs12825762	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12828165	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1532578	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2133557	0.92[EUR][1000 genomes]
rs4356269	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4758657	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4758658	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4758660	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4758692	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57311174	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58600355	0.85[EUR][1000 genomes]
rs61956098	0.80[ASN][1000 genomes]
rs61956119	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6416295	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6489014	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6489051	0.89[EUR][1000 genomes]
rs6489056	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7132830	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7134381	0.85[EUR][1000 genomes]
rs7136564	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7296680	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7297866	0.85[EUR][1000 genomes]
rs7298839	0.88[EUR][1000 genomes]
rs7303688	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7307867	0.85[EUR][1000 genomes]
rs7311573	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7955513	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7967928	0.87[EUR][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122955200-122983400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122955200-122983400	Strong transcription	Fetal Thymus	thymus
3	chr12:122955600-122980800	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:122955600-122981200	Strong transcription	Dnd41	blood
5	chr12:122955600-122982200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:122955600-122982600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:122956200-122984000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:122956600-122982400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:122956600-122982800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:122956600-122983000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:122957000-122981200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:122957000-122981600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:122957000-122981800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:122957000-122982600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr12:122957200-122979600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:122957200-122981400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:122957200-122982000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:122957200-122983000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:122957400-122980600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:122957400-122981200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:122957600-122978800	Strong transcription	Brain Anterior Caudate	brain
22	chr12:122958000-122982600	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:122958600-122981000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:122959400-122984000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:122959800-122979200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:122963400-122982600	Weak transcription	Fetal Heart	heart
27	chr12:122963600-122984000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:122967800-122982800	Strong transcription	Fetal Muscle Leg	muscle
29	chr12:122968400-122980800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr12:122968600-122978800	Genic enhancers	HepG2	liver
31	chr12:122970000-122979000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:122971000-122982400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:122972000-122981000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:122972600-122982000	Strong transcription	Hela-S3	cervix
35	chr12:122973000-122984000	Weak transcription	Esophagus	oesophagus
36	chr12:122973000-122984600	Weak transcription	Gastric	stomach
37	chr12:122973200-122982400	Weak transcription	Psoas Muscle	Psoas
38	chr12:122973800-122981800	Weak transcription	Pancreas	Pancrea
39	chr12:122974000-122984000	Weak transcription	Right Ventricle	heart
40	chr12:122974200-122982000	Strong transcription	Fetal Intestine Large	intestine
41	chr12:122974200-122982800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr12:122974200-122983600	Weak transcription	Brain Angular Gyrus	brain
43	chr12:122974200-122984400	Weak transcription	Stomach Mucosa	stomach
44	chr12:122975400-122982200	Strong transcription	Fetal Stomach	stomach
45	chr12:122975800-122982800	Strong transcription	Fetal Intestine Small	intestine
46	chr12:122976800-122979400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:122976800-122979800	Weak transcription	Spleen	Spleen
48	chr12:122976800-122984000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:122976800-122984000	Weak transcription	Colonic Mucosa	Colon
50	chr12:122976800-122984200	Weak transcription	Fetal Kidney	kidney

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