Variant report

Variant	rs2050544
Chromosome Location	chr1:61587238-61587239
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr1:61585986-61587253	HEK293	kidney:	n/a	chr1:61586888-61586897
2	EP300	chr1:61586076-61587566	K562	blood:	n/a	chr1:61587497-61587511 chr1:61587227-61587236 chr1:61587554-61587561 chr1:61587503-61587517 chr1:61586807-61586821
3	TBL1XR1	chr1:61586636-61587568	K562	blood:	n/a	n/a
4	MYC	chr1:61586287-61587266	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:61546278..61549906-chr1:61584945..61588150,4	K562	blood:
2	chr1:61585628..61588441-chr1:61589112..61591565,4	K562	blood:
3	chr1:61585280..61587671-chr1:61616173..61618887,2	K562	blood:
4	chr1:61515616..61517513-chr1:61585866..61587878,2	K562	blood:
5	chr1:61545786..61550294-chr1:61584630..61589625,7	K562	blood:
6	chr1:61585959..61588154-chr1:61641270..61643000,2	K562	blood:
7	chr1:61501914..61504741-chr1:61586889..61589554,2	K562	blood:
8	chr1:61586978..61588687-chr1:61705732..61707786,2	K562	blood:
9	chr1:61581224..61584130-chr1:61584946..61587313,5	K562	blood:
10	chr1:61586702..61589358-chr1:61595053..61596740,2	K562	blood:
11	chr1:61584347..61588308-chr1:61598128..61600644,3	K562	blood:
12	chr1:61520526..61523286-chr1:61586860..61589725,3	K562	blood:
13	chr1:61585743..61588547-chr1:61696808..61699066,2	K562	blood:
14	chr1:61585280..61588265-chr1:61616173..61618887,3	K562	blood:
15	chr1:61567279..61569762-chr1:61586131..61588682,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270742	TF binding region
ENSG00000162599	Chromatin interaction
ENSG00000270742	Chromatin interaction
ENSG00000263380	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10493302	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]
rs10889206	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12082005	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12133298	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1391432	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1909118	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2807990	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs334708	0.85[YRI][hapmap]
rs334735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs334736	0.89[EUR][1000 genomes]
rs334738	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs384893	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4430360	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4620575	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs6670604	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9436630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs964091	0.82[JPT][hapmap]

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61564400-61587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:61581400-61592000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:61581400-61604600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:61581600-61589800	Weak transcription	Esophagus	oesophagus
5	chr1:61582400-61604800	Weak transcription	Hela-S3	cervix
6	chr1:61584400-61590000	Enhancers	A549	lung
7	chr1:61584400-61591000	Enhancers	Fetal Lung	lung
8	chr1:61584400-61591600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:61584600-61588400	Weak transcription	Left Ventricle	heart
10	chr1:61584600-61589800	Weak transcription	Gastric	stomach
11	chr1:61584600-61589800	Weak transcription	Pancreas	Pancrea
12	chr1:61584600-61589800	Weak transcription	Right Ventricle	heart
13	chr1:61584600-61597800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:61585000-61587600	Enhancers	Rectal Smooth Muscle	rectum
15	chr1:61585000-61597400	Weak transcription	Ovary	ovary
16	chr1:61585400-61587400	Enhancers	Stomach Mucosa	stomach
17	chr1:61585800-61587400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:61586000-61587400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:61586200-61587600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:61586200-61589800	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:61586200-61590800	Enhancers	Brain Germinal Matrix	brain
22	chr1:61586200-61597800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:61586400-61588000	Weak transcription	Psoas Muscle	Psoas
24	chr1:61586400-61588200	Enhancers	Colon Smooth Muscle	Colon
25	chr1:61586400-61588800	Enhancers	Brain Anterior Caudate	brain
26	chr1:61586400-61597000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:61586600-61590000	Enhancers	Fetal Heart	heart
28	chr1:61586600-61590400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:61586600-61598200	Weak transcription	Fetal Intestine Small	intestine
30	chr1:61586800-61587400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:61586800-61587400	Weak transcription	Brain Angular Gyrus	brain
32	chr1:61586800-61587800	Enhancers	HepG2	liver
33	chr1:61586800-61588600	Enhancers	Adipose Nuclei	Adipose
34	chr1:61586800-61588800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:61586800-61589600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:61586800-61589800	Weak transcription	Right Atrium	heart
37	chr1:61586800-61590800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:61586800-61591200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:61586800-61592200	Enhancers	Brain Substantia Nigra	brain
40	chr1:61586800-61597400	Weak transcription	NHEK	skin
41	chr1:61586800-61597800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:61587000-61587400	Enhancers	Brain Hippocampus Middle	brain
43	chr1:61587000-61587800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:61587000-61587800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:61587000-61588000	Weak transcription	Aorta	Aorta
46	chr1:61587000-61588000	Weak transcription	Fetal Brain Female	brain
47	chr1:61587000-61588600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:61587000-61589200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:61587000-61590000	Enhancers	Brain Cingulate Gyrus	brain
50	chr1:61587000-61590200	Enhancers	Skeletal Muscle Male	skeletal muscle

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