Variant report

Variant	rs59604030
Chromosome Location	chr1:220873242-220873243
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220869909..220871487-chr1:220872006..220873594,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12045953	1.00[AMR][1000 genomes]
rs57487362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60253016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74141812	0.88[AFR][1000 genomes]
rs74141826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74141828	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468194	chr1:220845610-220885612	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv549227	chr1:220845610-220885612	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220865200-220874200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:220865200-220879200	Weak transcription	Ovary	ovary
3	chr1:220865400-220873800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:220865400-220874400	Weak transcription	Colonic Mucosa	Colon
5	chr1:220865400-220876200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:220866000-220873400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:220866000-220873600	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:220866600-220879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:220868400-220873600	Strong transcription	Fetal Intestine Small	intestine
10	chr1:220870000-220873600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:220870400-220873600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:220870600-220873400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:220870600-220873600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:220871200-220873600	Weak transcription	Brain Germinal Matrix	brain
15	chr1:220871400-220874000	Weak transcription	Brain Anterior Caudate	brain
16	chr1:220871400-220876200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:220871600-220873400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:220871600-220873400	Weak transcription	Left Ventricle	heart
19	chr1:220871600-220878400	Weak transcription	Gastric	stomach
20	chr1:220871800-220873400	Weak transcription	Fetal Lung	lung
21	chr1:220871800-220876600	Weak transcription	Spleen	Spleen
22	chr1:220871800-220878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:220872000-220873400	Weak transcription	Right Ventricle	heart
24	chr1:220872000-220873600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:220872000-220873600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:220872000-220874000	Weak transcription	Fetal Stomach	stomach
27	chr1:220872000-220874400	Enhancers	Placenta	Placenta
28	chr1:220872000-220874600	Enhancers	HepG2	liver
29	chr1:220872000-220875600	Weak transcription	Lung	lung
30	chr1:220872200-220878800	Weak transcription	Fetal Intestine Large	intestine
31	chr1:220872400-220874600	Enhancers	Colon Smooth Muscle	Colon
32	chr1:220872400-220875600	Enhancers	Fetal Brain Male	brain
33	chr1:220872600-220873400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:220872600-220875200	Enhancers	Adipose Nuclei	Adipose
35	chr1:220872800-220876000	Weak transcription	Liver	Liver
36	chr1:220873000-220873400	Enhancers	Fetal Muscle Trunk	muscle
37	chr1:220873000-220873600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:220873000-220874800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:220873200-220873400	Enhancers	Fetal Brain Female	brain
40	chr1:220873200-220873400	Enhancers	Pancreas	Pancrea
41	chr1:220873200-220873600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:220873200-220873600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:220873200-220873600	Enhancers	Esophagus	oesophagus
44	chr1:220873200-220873600	Enhancers	Fetal Muscle Leg	muscle
45	chr1:220873200-220873800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:220873200-220874400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:220873200-220874400	Enhancers	Brain Angular Gyrus	brain
48	chr1:220873200-220874400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:220873200-220874600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:220873200-220874600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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