Variant report

Variant	rs60816516
Chromosome Location	chr1:211790165-211790166
allele	A/G
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	chr1:211769278..211770974-chr1:211790049..211792905,2	K562	blood:
2	chr1:211789857..211792626-chr1:211793343..211797405,3	MCF-7	breast:
3	chr1:211782443..211790536-chr1:211800686..211806134,8	K562	blood:
4	chr1:211750028..211753118-chr1:211788431..211791271,4	K562	blood:
5	chr1:211769278..211771749-chr1:211790049..211793183,3	K562	blood:
6	chr1:211789684..211791521-chr1:211794844..211797087,2	K562	blood:
7	chr1:211788189..211791176-chr1:211807791..211810721,2	MCF-7	breast:
8	chr1:211786818..211788395-chr1:211788952..211790929,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11585653	1.00[ASN][1000 genomes]
rs11586104	0.93[ASN][1000 genomes]
rs56732290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56857557	1.00[ASN][1000 genomes]
rs57816043	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59184551	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7553069	0.82[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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211781800-211792000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:211785600-211794800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:211787000-211796800	Weak transcription	Gastric	stomach
4	chr1:211787400-211793400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:211788200-211790200	Weak transcription	Colonic Mucosa	Colon
6	chr1:211788200-211794600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:211788400-211790200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:211788400-211791800	Enhancers	K562	blood
9	chr1:211788400-211793400	Weak transcription	Spleen	Spleen
10	chr1:211788600-211792200	Weak transcription	Fetal Intestine Large	intestine
11	chr1:211788800-211792600	Enhancers	HepG2	liver
12	chr1:211789000-211792200	Weak transcription	Fetal Intestine Small	intestine
13	chr1:211789200-211792600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:211789400-211790200	Enhancers	Fetal Stomach	stomach
15	chr1:211789400-211790400	Enhancers	Liver	Liver
16	chr1:211789400-211790400	Enhancers	Right Atrium	heart
17	chr1:211789400-211790400	Enhancers	Right Ventricle	heart
18	chr1:211789400-211790600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:211789400-211790600	Enhancers	Adipose Nuclei	Adipose
20	chr1:211789400-211790800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:211789400-211790800	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:211789600-211790200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr1:211789600-211790400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:211789600-211790400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:211789600-211790400	Enhancers	Aorta	Aorta
26	chr1:211789600-211790400	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:211789600-211790400	Enhancers	Brain Hippocampus Middle	brain
28	chr1:211789600-211790400	Enhancers	Brain Substantia Nigra	brain
29	chr1:211789600-211790400	Enhancers	Esophagus	oesophagus
30	chr1:211789600-211790400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:211789600-211790400	Enhancers	Stomach Smooth Muscle	stomach
32	chr1:211789600-211790600	Enhancers	Fetal Muscle Leg	muscle
33	chr1:211789600-211790800	Enhancers	Left Ventricle	heart
34	chr1:211789800-211790200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:211789800-211790400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:211789800-211790400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:211789800-211790400	Enhancers	Colon Smooth Muscle	Colon
38	chr1:211789800-211790400	Enhancers	Ovary	ovary
39	chr1:211789800-211790600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr1:211790000-211790200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:211790000-211790200	Enhancers	Stomach Mucosa	stomach
42	chr1:211790000-211790400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr1:211790000-211790400	Enhancers	Rectal Smooth Muscle	rectum

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