Variant report

Variant	rs531053788
Chromosome Location	chr1:61574168-61574169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:61568661..61570875-chr1:61572479..61574440,2	K562	blood:
2	chr1:61546229..61553202-chr1:61567332..61574812,14	K562	blood:

Variant related genes	Relation type
ENSG00000162599	Chromatin interaction
ENSG00000263380	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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:36 , 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	chr1:61565200-61574200	Weak transcription	HepG2	liver
12	chr1:61566000-61576000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:61567000-61579000	Weak transcription	Left Ventricle	heart
14	chr1:61567600-61581200	Weak transcription	Ovary	ovary
15	chr1:61567600-61582000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:61568000-61580000	Weak transcription	A549	lung
17	chr1:61569200-61574800	Weak transcription	Adipose Nuclei	Adipose
18	chr1:61569200-61581000	Weak transcription	Stomach Mucosa	stomach
19	chr1:61569400-61576200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:61569800-61576200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:61569800-61576200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:61570000-61575800	Weak transcription	Aorta	Aorta
23	chr1:61570200-61575800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:61570600-61574200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:61570800-61575600	Weak transcription	Fetal Heart	heart
26	chr1:61570800-61575800	Weak transcription	Fetal Brain Male	brain
27	chr1:61570800-61575800	Weak transcription	Small Intestine	intestine
28	chr1:61571600-61575800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:61571800-61575600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:61572200-61574400	Weak transcription	Liver	Liver
31	chr1:61572800-61574600	ZNF genes & repeats	K562	blood
32	chr1:61573200-61574200	ZNF genes & repeats	Fetal Lung	lung
33	chr1:61573800-61574200	Weak transcription	Brain Substantia Nigra	brain
34	chr1:61573800-61575600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:61574000-61574800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:61574000-61576400	Weak transcription	Fetal Muscle Leg	muscle

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