Variant report

Variant	rs2047445
Chromosome Location	chr1:214469962-214469963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:214450142..214452854-chr1:214468373..214471218,3	K562	blood:
2	chr1:214468967..214470515-chr1:214482092..214484704,2	K562	blood:
3	chr1:214453722..214455566-chr1:214467161..214470308,4	MCF-7	breast:
4	chr1:214450853..214454119-chr1:214469233..214472526,4	K562	blood:
5	chr1:214462387..214466759-chr1:214468789..214472105,4	K562	blood:
6	chr1:214467458..214470045-chr1:214474937..214476600,2	K562	blood:
7	chr1:214387372..214389363-chr1:214467457..214470026,2	K562	blood:
8	chr1:214462833..214466759-chr1:214468117..214470451,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143499	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10157166	0.82[AMR][1000 genomes]
rs10465696	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10465697	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1048791	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120298	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120299	1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120300	0.83[AMR][1000 genomes]
rs11800749	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073421	1.00[ASN][1000 genomes]
rs1391553	1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498364	1.00[ASN][1000 genomes]
rs17022608	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17730755	1.00[JPT][hapmap]
rs17731174	1.00[JPT][hapmap]
rs17786949	1.00[JPT][hapmap]
rs35949806	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3767842	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655243	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655244	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655330	1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4655332	1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655333	1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655334	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4655336	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55760458	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59864830	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660335	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687629	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6695148	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7412913	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs867444	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867445	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867446	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904321	1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308435	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9430131	1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9430133	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955920	1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs958304	1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214455600-214487800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:214455600-214489000	Weak transcription	Ovary	ovary
3	chr1:214456400-214470000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:214456400-214491800	Weak transcription	Pancreas	Pancrea
5	chr1:214456600-214483200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:214456800-214470000	Weak transcription	HMEC	breast
7	chr1:214457200-214478200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:214458600-214470000	Weak transcription	A549	lung
9	chr1:214459200-214483000	Weak transcription	Liver	Liver
10	chr1:214459200-214491400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:214461400-214475800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:214461600-214475600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:214461600-214483000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:214461800-214482800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:214462000-214471400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:214462000-214491800	Weak transcription	NHEK	skin
17	chr1:214462400-214470200	Weak transcription	HSMMtube	muscle
18	chr1:214462400-214475800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:214462600-214483200	Weak transcription	Dnd41	blood
20	chr1:214463200-214475800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:214463400-214470400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:214463400-214478200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:214463600-214479400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:214464000-214478600	Weak transcription	Lung	lung
25	chr1:214465800-214470400	Weak transcription	Left Ventricle	heart
26	chr1:214465800-214475800	Weak transcription	Right Ventricle	heart
27	chr1:214466200-214470400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:214466400-214470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:214466400-214478400	Weak transcription	Fetal Intestine Small	intestine
30	chr1:214467800-214470000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:214467800-214470200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:214467800-214471600	Enhancers	Fetal Heart	heart
33	chr1:214468000-214470200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
34	chr1:214468000-214470400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:214468000-214470800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr1:214468400-214470000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr1:214468400-214470400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:214468400-214470600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:214468400-214471000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:214468400-214471000	Enhancers	Adipose Nuclei	Adipose
41	chr1:214468400-214471200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:214468400-214471600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
43	chr1:214468600-214470200	Weak transcription	Fetal Kidney	kidney
44	chr1:214468600-214470600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:214468600-214471200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:214468800-214470000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr1:214468800-214470200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr1:214468800-214470600	Enhancers	GM12878-XiMat	blood
49	chr1:214468800-214471000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:214469000-214475800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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