Variant report

Variant	rs395936
Chromosome Location	chr1:61605207-61605208
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:61599402..61604405-chr1:61604981..61606872,4	K562	blood:
2	chr1:61595988..61597504-chr1:61603571..61605309,2	K562	blood:
3	chr1:61603444..61606852-chr1:61607360..61609614,3	K562	blood:
4	chr1:61601892..61604405-chr1:61604981..61606872,2	K562	blood:
5	chr1:61599335..61602150-chr1:61604972..61607069,2	MCF-7	breast:
6	chr1:61546479..61549728-chr1:61604442..61607860,4	K562	blood:
7	chr1:61598222..61600902-chr1:61603956..61606855,3	K562	blood:
8	chr1:61602650..61606392-chr1:61608664..61611544,4	MCF-7	breast:
9	chr1:61584667..61586384-chr1:61605041..61607679,2	K562	blood:
10	chr1:61436016..61437742-chr1:61603423..61605453,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237928	Chromatin interaction
ENSG00000162599	Chromatin interaction
ENSG00000263380	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12064543	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12070080	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17121598	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2807991	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs334698	0.94[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334699	0.90[ASW][hapmap];0.94[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334700	0.85[YRI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334701	0.87[GIH][hapmap]
rs334702	0.82[ASN][1000 genomes]
rs334703	0.90[ASW][hapmap];0.94[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334704	0.90[ASW][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334705	1.00[CEU][hapmap];0.80[YRI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334706	0.85[YRI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334709	0.85[YRI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334710	0.84[EUR][1000 genomes]
rs334713	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs334716	0.81[ASW][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs334718	0.84[EUR][1000 genomes]
rs334719	0.93[EUR][1000 genomes]
rs334721	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs334723	0.81[ASW][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs334725	0.90[ASW][hapmap];0.94[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334726	0.85[YRI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334727	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334728	0.90[ASW][hapmap];0.94[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334729	0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs334730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs334733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs334734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs334737	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs334739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3748543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs382704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs406412	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs440611	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4546954	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4915586	1.00[EUR][1000 genomes]
rs4915728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6587912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs694151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs694161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs395936	HBG1	trans	brain	seeQTL
rs395936	HBG2	trans	brain	seeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61587000-61606800	Weak transcription	Fetal Intestine Large	intestine
2	chr1:61598800-61605600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:61599000-61606200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:61599400-61605800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:61599600-61605800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:61600000-61617200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:61603800-61607000	Enhancers	Left Ventricle	heart
8	chr1:61603800-61607200	Enhancers	Psoas Muscle	Psoas
9	chr1:61603800-61607400	Enhancers	Aorta	Aorta
10	chr1:61603800-61608400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:61604000-61608400	Weak transcription	Lung	lung
12	chr1:61604200-61605600	Weak transcription	Esophagus	oesophagus
13	chr1:61604400-61606800	Enhancers	Brain Hippocampus Middle	brain
14	chr1:61604400-61609200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:61604600-61606400	Enhancers	Placenta	Placenta
16	chr1:61604600-61607800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:61604600-61607800	Enhancers	Fetal Muscle Leg	muscle
18	chr1:61604600-61608800	Enhancers	Brain Anterior Caudate	brain
19	chr1:61604600-61609000	Enhancers	Liver	Liver
20	chr1:61604600-61610400	Enhancers	Brain Substantia Nigra	brain
21	chr1:61604800-61605400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr1:61604800-61605400	Flanking Active TSS	A549	lung
23	chr1:61604800-61605600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr1:61604800-61605800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr1:61604800-61606200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:61604800-61606600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:61604800-61606800	Enhancers	Osteobl	bone
28	chr1:61604800-61607400	Enhancers	Fetal Brain Male	brain
29	chr1:61604800-61607600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:61604800-61607600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:61604800-61607600	Enhancers	Ovary	ovary
32	chr1:61604800-61607600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:61604800-61607800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:61604800-61607800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:61604800-61608000	Enhancers	Fetal Heart	heart
36	chr1:61604800-61608600	Enhancers	Adipose Nuclei	Adipose
37	chr1:61604800-61608600	Enhancers	HepG2	liver
38	chr1:61604800-61608800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr1:61604800-61609400	Enhancers	Brain Cingulate Gyrus	brain
40	chr1:61604800-61610000	Enhancers	Colon Smooth Muscle	Colon
41	chr1:61604800-61610200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:61605000-61605400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr1:61605000-61605400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:61605000-61605400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:61605000-61605400	Flanking Active TSS	HMEC	breast
46	chr1:61605000-61605400	Enhancers	NH-A	brain
47	chr1:61605000-61605400	Flanking Active TSS	NHDF-Ad	bronchial
48	chr1:61605000-61605800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:61605000-61606000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr1:61605000-61606000	Enhancers	Spleen	Spleen

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