Variant report

Variant	rs1977337
Chromosome Location	chr1:67419517-67419518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67389320..67391509-chr1:67418226..67419971,2	MCF-7	breast:
2	chr1:67395321..67396902-chr1:67419319..67420831,2	K562	blood:
3	chr1:67418245..67420031-chr1:67425628..67427612,2	K562	blood:

Variant related genes	Relation type
ENSG00000152763	Chromatin interaction
ENSG00000198160	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11208978	0.81[AMR][1000 genomes]
rs12034718	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130046	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12133567	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12136942	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2025609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031495	0.88[AMR][1000 genomes]
rs2147838	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2815369	0.81[AMR][1000 genomes]
rs3008861	0.88[AMR][1000 genomes]
rs3008892	0.81[AMR][1000 genomes]
rs4553158	0.90[EUR][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	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1977337	MIER1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67396800-67429800	Weak transcription	Pancreas	Pancrea
2	chr1:67396800-67458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:67396800-67459000	Weak transcription	Esophagus	oesophagus
4	chr1:67397600-67424400	Weak transcription	Colonic Mucosa	Colon
5	chr1:67397600-67457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:67400600-67466600	Weak transcription	Aorta	Aorta
7	chr1:67403200-67419800	Weak transcription	Gastric	stomach
8	chr1:67403200-67429400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:67405200-67431400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:67405600-67445400	Strong transcription	Fetal Thymus	thymus
11	chr1:67406200-67433000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr1:67406400-67439200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:67406400-67455600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:67407000-67445400	Strong transcription	Dnd41	blood
15	chr1:67407600-67431200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:67408200-67448000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:67408200-67450200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:67409200-67426400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:67409400-67446400	Weak transcription	Brain Angular Gyrus	brain
20	chr1:67409400-67447600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:67409600-67430400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:67410000-67431200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr1:67410400-67433000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr1:67410600-67419800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:67410600-67446400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr1:67410600-67453200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:67410800-67426400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:67411000-67455000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:67411200-67419800	Strong transcription	Fetal Intestine Large	intestine
30	chr1:67411200-67421600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:67411200-67421600	Strong transcription	Placenta	Placenta
32	chr1:67411200-67429600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:67411200-67431400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:67411200-67431800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:67411200-67433800	Strong transcription	Liver	Liver
36	chr1:67411200-67454800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:67411200-67456200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:67411600-67429200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:67411600-67429400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr1:67411800-67429200	Strong transcription	HMEC	breast
41	chr1:67412400-67419800	Weak transcription	A549	lung
42	chr1:67412600-67423000	Strong transcription	Primary T cells from cord blood	blood
43	chr1:67412800-67440600	Weak transcription	Psoas Muscle	Psoas
44	chr1:67413200-67432600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:67413400-67447000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr1:67413400-67456400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr1:67413600-67419800	Weak transcription	Stomach Mucosa	stomach
48	chr1:67413600-67420200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:67413600-67426200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:67413600-67428800	Weak transcription	Brain Substantia Nigra	brain

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