Variant report

Variant	rs10493302
Chromosome Location	chr1:61571392-61571393
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	chr1:61558428..61559949-chr1:61569438..61571785,2	K562	blood:
2	chr1:61565382..61568002-chr1:61570318..61572303,2	K562	blood:
3	chr1:61558952..61561705-chr1:61569096..61571977,3	K562	blood:
4	chr1:61553582..61555845-chr1:61569183..61571735,2	K562	blood:
5	chr1:61562916..61564563-chr1:61569793..61571551,2	MCF-7	breast:
6	chr1:61519268..61523270-chr1:61570391..61572447,3	K562	blood:
7	chr1:61546229..61553202-chr1:61567332..61574812,14	K562	blood:
8	chr1:61560205..61563000-chr1:61570477..61572307,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162599	Chromatin interaction
ENSG00000263380	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10889206	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12082005	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12133298	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1391432	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1909118	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2050544	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2807990	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334707	0.85[YRI][hapmap]
rs334708	0.81[GIH][hapmap];0.80[LWK][hapmap];0.93[MEX][hapmap];0.85[YRI][hapmap]
rs334711	0.86[MEX][hapmap]
rs334735	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs334736	0.94[EUR][1000 genomes]
rs334738	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs384893	0.84[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4430360	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4620575	0.87[CHD][hapmap];0.82[JPT][hapmap]
rs6670604	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9436630	1.00[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.82[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs964091	0.87[CHD][hapmap];0.82[JPT][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10493302	HBG1	trans	brain	seeQTL
rs10493302	HBG2	trans	brain	seeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61554600-61581200	Weak transcription	Esophagus	oesophagus
2	chr1:61556600-61573200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:61558600-61581200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:61558600-61586000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:61559000-61582000	Weak transcription	Hela-S3	cervix
6	chr1:61560400-61575800	Weak transcription	Fetal Stomach	stomach
7	chr1:61561400-61576200	Weak transcription	HUVEC	blood vessel
8	chr1:61563600-61586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:61563800-61585600	Weak transcription	NHEK	skin
10	chr1:61563800-61585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:61564400-61587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:61565200-61574200	Weak transcription	HepG2	liver
13	chr1:61566000-61576000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:61567000-61579000	Weak transcription	Left Ventricle	heart
15	chr1:61567600-61581200	Weak transcription	Ovary	ovary
16	chr1:61567600-61582000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:61567800-61571800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:61567800-61571800	Enhancers	Brain Substantia Nigra	brain
19	chr1:61568000-61571600	Enhancers	Brain Hippocampus Middle	brain
20	chr1:61568000-61580000	Weak transcription	A549	lung
21	chr1:61568400-61572200	Enhancers	Liver	Liver
22	chr1:61569000-61573400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:61569200-61573200	Weak transcription	Fetal Lung	lung
24	chr1:61569200-61573400	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:61569200-61574800	Weak transcription	Adipose Nuclei	Adipose
26	chr1:61569200-61581000	Weak transcription	Stomach Mucosa	stomach
27	chr1:61569400-61576200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:61569600-61571600	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:61569800-61572200	Enhancers	K562	blood
30	chr1:61569800-61576200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:61569800-61576200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:61570000-61575800	Weak transcription	Aorta	Aorta
33	chr1:61570200-61575800	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:61570400-61572800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:61570600-61574200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:61570800-61571800	Enhancers	Brain Anterior Caudate	brain
37	chr1:61570800-61572200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:61570800-61575600	Weak transcription	Fetal Heart	heart
39	chr1:61570800-61575800	Weak transcription	Fetal Brain Male	brain
40	chr1:61570800-61575800	Weak transcription	Small Intestine	intestine
41	chr1:61571000-61571800	Enhancers	Skeletal Muscle Male	skeletal muscle

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