Variant report

Variant	rs57457525
Chromosome Location	chr1:120314271-120314272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr1:120313734-120314517	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:120307608..120310232-chr1:120312392..120315286,2	MCF-7	breast:
2	chr1:120286779..120287318-chr1:120313731..120314350,3	MCF-7	breast:
3	chr1:120307009..120310349-chr1:120312999..120315944,3	K562	blood:
4	chr1:120312850..120316176-chr1:120320921..120324121,3	MCF-7	breast:
5	chr1:120306158..120308946-chr1:120309949..120314499,4	K562	blood:

No data

Variant related genes	Relation type
HMGCS2	TF binding region
ENSG00000134240	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56215403	1.00[AMR][1000 genomes]
rs56896270	1.00[AMR][1000 genomes]
rs58915171	1.00[AMR][1000 genomes]
rs74115095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74115355	1.00[AMR][1000 genomes]
rs74115366	1.00[AMR][1000 genomes]
rs74115368	1.00[AMR][1000 genomes]
rs74115370	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 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	chr1:120309800-120316000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:120310000-120316200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:120310000-120316600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:120310200-120316200	Weak transcription	Psoas Muscle	Psoas
5	chr1:120310400-120315400	Weak transcription	Hela-S3	cervix
6	chr1:120310600-120314400	Enhancers	Placenta	Placenta
7	chr1:120311600-120314400	Enhancers	Stomach Mucosa	stomach
8	chr1:120311600-120318800	Enhancers	Fetal Intestine Large	intestine
9	chr1:120311800-120315800	Enhancers	Liver	Liver
10	chr1:120311800-120315800	Weak transcription	Fetal Heart	heart
11	chr1:120311800-120316200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:120311800-120316200	Weak transcription	Left Ventricle	heart
13	chr1:120311800-120316400	Weak transcription	Adipose Nuclei	Adipose
14	chr1:120311800-120316400	Weak transcription	Ovary	ovary
15	chr1:120311800-120317800	Enhancers	HepG2	liver
16	chr1:120311800-120319600	Enhancers	Fetal Intestine Small	intestine
17	chr1:120311800-120324800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:120311800-120325400	Weak transcription	Lung	lung
19	chr1:120312000-120314800	Enhancers	Duodenum Mucosa	Duodenum
20	chr1:120312000-120315600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:120312000-120316400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:120312000-120316600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:120312000-120318600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:120312200-120316200	Weak transcription	Gastric	stomach
25	chr1:120312400-120315800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:120312400-120316000	Weak transcription	Right Ventricle	heart
27	chr1:120312600-120316000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:120313200-120314400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr1:120313400-120314600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr1:120313400-120317400	Enhancers	Fetal Lung	lung
31	chr1:120313600-120314400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:120313600-120314400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:120313800-120314400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:120313800-120314400	Enhancers	Colonic Mucosa	Colon
35	chr1:120313800-120314400	Enhancers	Esophagus	oesophagus
36	chr1:120313800-120314400	Enhancers	Fetal Muscle Leg	muscle
37	chr1:120313800-120314400	Enhancers	Stomach Smooth Muscle	stomach
38	chr1:120313800-120314600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:120313800-120314600	Enhancers	Brain Germinal Matrix	brain
40	chr1:120314000-120314400	Enhancers	Pancreas	Pancrea
41	chr1:120314000-120314600	Enhancers	Fetal Stomach	stomach
42	chr1:120314000-120314800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:120314000-120314800	Enhancers	Fetal Kidney	kidney
44	chr1:120314200-120314400	Enhancers	Right Atrium	heart
45	chr1:120314200-120314400	Enhancers	Small Intestine	intestine
46	chr1:120314200-120314600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:120314200-120314600	Bivalent Enhancer	NHDF-Ad	bronchial
48	chr1:120314200-120315400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:120314200-120315400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:120314200-120316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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