Variant report

Variant	rs1626035
Chromosome Location	chr1:154311144-154311145
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	chr1:154301040..154304335-chr1:154309259..154312100,3	K562	blood:

Variant related genes	Relation type
ENSG00000143515	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11809740	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1352333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1760796	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1931299	0.90[EUR][1000 genomes]
rs2274988	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297606	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2297607	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2481064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483710	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483711	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2633438	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2988721	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34640592	0.88[EUR][1000 genomes]
rs35362987	0.92[EUR][1000 genomes]
rs35387092	0.92[EUR][1000 genomes]
rs35463210	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35800693	0.92[EUR][1000 genomes]
rs3916566	0.92[EUR][1000 genomes]
rs56367957	0.90[EUR][1000 genomes]
rs61578738	0.91[EUR][1000 genomes]
rs6427560	0.92[EUR][1000 genomes]
rs6427561	0.90[EUR][1000 genomes]
rs7547298	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154301400-154318400	Weak transcription	Small Intestine	intestine
2	chr1:154302200-154312200	Weak transcription	Gastric	stomach
3	chr1:154302200-154312600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:154302200-154322400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:154302400-154322400	Strong transcription	Dnd41	blood
6	chr1:154302400-154323200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:154302600-154314400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:154302600-154318200	Weak transcription	Fetal Heart	heart
9	chr1:154302600-154320800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:154302600-154322600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:154302600-154323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:154302800-154323000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:154303000-154313000	Weak transcription	Colonic Mucosa	Colon
14	chr1:154303000-154322200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:154303000-154322600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:154303200-154312800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:154303200-154322200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:154303200-154322400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:154303200-154323400	Strong transcription	Fetal Brain Female	brain
20	chr1:154303200-154324600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:154304000-154322000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:154304200-154312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:154304400-154312800	Weak transcription	Esophagus	oesophagus
24	chr1:154304800-154312600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:154304800-154317800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:154305400-154311600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:154305800-154322200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr1:154306200-154314200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:154306400-154322400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:154306800-154312000	Weak transcription	HSMM	muscle
31	chr1:154307200-154311200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:154307200-154314600	Weak transcription	NHEK	skin
33	chr1:154307600-154311800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:154307600-154312400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:154307600-154314800	Strong transcription	HSMMtube	muscle
36	chr1:154307600-154322600	Strong transcription	Osteobl	bone
37	chr1:154307600-154324600	Weak transcription	Right Atrium	heart
38	chr1:154307800-154311400	Weak transcription	Lung	lung
39	chr1:154307800-154311600	Weak transcription	A549	lung
40	chr1:154307800-154311800	Weak transcription	Spleen	Spleen
41	chr1:154307800-154312600	Weak transcription	Pancreas	Pancrea
42	chr1:154307800-154312800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:154307800-154316400	Weak transcription	Liver	Liver
44	chr1:154307800-154323200	Strong transcription	Fetal Stomach	stomach
45	chr1:154307800-154323200	Strong transcription	NHLF	lung
46	chr1:154308000-154312600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:154308000-154314600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr1:154308000-154321000	Weak transcription	Stomach Mucosa	stomach
49	chr1:154308000-154322600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:154308000-154323000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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