Variant report

Variant	rs2487691
Chromosome Location	chr1:225940740-225940741
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	chr1:225938850..225941091-chr1:225955099..225957514,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12141610	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2126345	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615067	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2615076	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4653666	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4653669	0.96[ASN][1000 genomes]
rs7532460	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7535106	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs898848	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225934800-225943200	Weak transcription	Brain Angular Gyrus	brain
2	chr1:225935000-225941000	Weak transcription	Hela-S3	cervix
3	chr1:225935000-225949600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:225935200-225942800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:225935600-225941000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:225935600-225942600	Weak transcription	Fetal Thymus	thymus
7	chr1:225935600-225942600	Weak transcription	Pancreas	Pancrea
8	chr1:225935800-225942800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:225936000-225942800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:225936000-225942800	Weak transcription	A549	lung
11	chr1:225936200-225943400	Weak transcription	Esophagus	oesophagus
12	chr1:225938000-225941000	Enhancers	Placenta	Placenta
13	chr1:225938400-225942600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:225938600-225942600	Weak transcription	Lung	lung
15	chr1:225938600-225945200	Weak transcription	Small Intestine	intestine
16	chr1:225938800-225942800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:225938800-225943200	Weak transcription	Gastric	stomach
18	chr1:225939000-225942600	Weak transcription	Adipose Nuclei	Adipose
19	chr1:225939000-225942800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:225939000-225942800	Weak transcription	Spleen	Spleen
21	chr1:225939200-225942400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:225939200-225942600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:225939200-225942800	Weak transcription	Right Atrium	heart
24	chr1:225939200-225949600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:225939400-225943200	Weak transcription	Fetal Kidney	kidney
26	chr1:225939600-225942600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:225939600-225942600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:225939600-225942600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:225939600-225942800	Weak transcription	Right Ventricle	heart
30	chr1:225939600-225943400	Weak transcription	Psoas Muscle	Psoas
31	chr1:225939800-225942600	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:225939800-225942600	Weak transcription	Left Ventricle	heart
33	chr1:225939800-225942600	Weak transcription	Ovary	ovary
34	chr1:225939800-225942600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:225939800-225943000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:225939800-225943000	Weak transcription	Fetal Stomach	stomach
37	chr1:225939800-225944800	Enhancers	HepG2	liver
38	chr1:225939800-225945800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:225940000-225941000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:225940000-225942600	Weak transcription	Osteobl	bone
41	chr1:225940000-225943000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:225940000-225943000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:225940000-225943000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:225940000-225943200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:225940200-225942600	Weak transcription	Fetal Lung	lung
46	chr1:225940200-225942800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:225940200-225942800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:225940200-225942800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:225940200-225942800	Weak transcription	Fetal Heart	heart
50	chr1:225940200-225943000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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