Variant report

Variant	rs4620575
Chromosome Location	chr1:61574660-61574661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61558889..61561862-chr1:61574499..61577159,2	K562	blood:
2	chr1:61546229..61553202-chr1:61567332..61574812,14	K562	blood:
3	chr1:61519435..61522332-chr1:61574406..61577353,2	K562	blood:

Variant related genes	Relation type
ENSG00000162599	Chromatin interaction
ENSG00000263380	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10493302	0.87[CHD][hapmap];0.82[JPT][hapmap]
rs10789092	1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs10889206	0.82[JPT][hapmap]
rs10889207	0.83[EUR][1000 genomes]
rs11207692	0.84[TSI][hapmap]
rs11207695	1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs11207696	0.83[EUR][1000 genomes]
rs12126737	1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs12130085	0.84[TSI][hapmap]
rs12142294	0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs12403502	1.00[TSI][hapmap]
rs12409737	0.83[EUR][1000 genomes]
rs12410750	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1391432	0.86[JPT][hapmap]
rs1909118	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs1930314	0.83[EUR][1000 genomes]
rs2050544	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2807990	0.82[JPT][hapmap]
rs334735	0.81[JPT][hapmap]
rs3767302	0.92[ASN][1000 genomes]
rs4915729	1.00[TSI][hapmap]
rs6670604	0.87[CHD][hapmap];0.82[JPT][hapmap]
rs9436630	0.91[CHD][hapmap];0.82[JPT][hapmap]
rs964091	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	esv3419277	chr1:61572964-61577762	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61554600-61581200	Weak transcription	Esophagus	oesophagus
2	chr1:61558600-61581200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:61558600-61586000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:61559000-61582000	Weak transcription	Hela-S3	cervix
5	chr1:61560400-61575800	Weak transcription	Fetal Stomach	stomach
6	chr1:61561400-61576200	Weak transcription	HUVEC	blood vessel
7	chr1:61563600-61586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:61563800-61585600	Weak transcription	NHEK	skin
9	chr1:61563800-61585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:61564400-61587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:61566000-61576000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:61567000-61579000	Weak transcription	Left Ventricle	heart
13	chr1:61567600-61581200	Weak transcription	Ovary	ovary
14	chr1:61567600-61582000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:61568000-61580000	Weak transcription	A549	lung
16	chr1:61569200-61574800	Weak transcription	Adipose Nuclei	Adipose
17	chr1:61569200-61581000	Weak transcription	Stomach Mucosa	stomach
18	chr1:61569400-61576200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:61569800-61576200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:61569800-61576200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:61570000-61575800	Weak transcription	Aorta	Aorta
22	chr1:61570200-61575800	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:61570800-61575600	Weak transcription	Fetal Heart	heart
24	chr1:61570800-61575800	Weak transcription	Fetal Brain Male	brain
25	chr1:61570800-61575800	Weak transcription	Small Intestine	intestine
26	chr1:61571600-61575800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:61571800-61575600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:61573800-61575600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:61574000-61574800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:61574000-61576400	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:61574200-61575400	Weak transcription	Fetal Lung	lung
32	chr1:61574200-61577800	Enhancers	HepG2	liver
33	chr1:61574200-61578400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:61574400-61578800	Enhancers	Liver	Liver
35	chr1:61574600-61580000	Weak transcription	K562	blood

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