Variant report

Variant	rs6691345
Chromosome Location	chr1:154302826-154302827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:154300672-154303012	H1-neurons	neurons:	n/a	chr1:154300840-154300849 chr1:154302227-154302240 chr1:154302376-154302386 chr1:154301996-154302004 chr1:154301993-154302002

No.	Distal block	Cell Line	Cell type
1	chr1:154192757..154194953-chr1:154301046..154303668,3	MCF-7	breast:
2	chr1:154301040..154304335-chr1:154309259..154312100,3	K562	blood:
3	chr1:154297523..154301046-chr1:154302603..154305255,3	K562	blood:

Variant related genes	Relation type
ATP8B2	TF binding region
ENSG00000143515	Chromatin interaction
ENSG00000238365	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143612	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11265539	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11576151	0.81[AMR][1000 genomes]
rs11578377	0.96[EUR][1000 genomes]
rs11578646	0.96[EUR][1000 genomes]
rs11579790	0.96[EUR][1000 genomes]
rs11800830	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1194583	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17699328	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1931298	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2010828	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4040747	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56128567	0.87[EUR][1000 genomes]
rs6427568	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6427575	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6673495	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs767804	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv523934	chr1:154296076-154307630	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154301000-154308400	Weak transcription	Fetal Kidney	kidney
2	chr1:154301200-154304000	Weak transcription	NHEK	skin
3	chr1:154301400-154303000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:154301400-154303000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:154301400-154303000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:154301400-154303400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr1:154301400-154303400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr1:154301400-154318400	Weak transcription	Small Intestine	intestine
9	chr1:154301600-154303000	Enhancers	Primary B cells from cord blood	blood
10	chr1:154301600-154303000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:154301600-154303200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
12	chr1:154301600-154303200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr1:154301600-154303400	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr1:154301800-154303000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:154301800-154303000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:154301800-154303000	Enhancers	HSMMtube	muscle
17	chr1:154301800-154303000	Weak transcription	HUVEC	blood vessel
18	chr1:154301800-154303400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:154301800-154303400	Weak transcription	Left Ventricle	heart
20	chr1:154301800-154303600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr1:154301800-154303600	Weak transcription	Lung	lung
22	chr1:154301800-154303600	Weak transcription	HSMM	muscle
23	chr1:154301800-154303800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:154301800-154304000	Weak transcription	Ovary	ovary
25	chr1:154301800-154304000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:154301800-154306800	Weak transcription	Right Atrium	heart
27	chr1:154301800-154307400	Weak transcription	Pancreas	Pancrea
28	chr1:154302000-154303000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:154302000-154303000	Enhancers	Primary hematopoietic stem cells	blood
30	chr1:154302000-154303000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:154302000-154303000	Weak transcription	Right Ventricle	heart
32	chr1:154302000-154303200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr1:154302000-154303200	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr1:154302000-154303200	Genic enhancers	Fetal Muscle Leg	muscle
35	chr1:154302000-154304000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:154302000-154306800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:154302200-154303000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:154302200-154303000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:154302200-154303000	Enhancers	Colonic Mucosa	Colon
40	chr1:154302200-154303400	Weak transcription	Adipose Nuclei	Adipose
41	chr1:154302200-154303400	Weak transcription	A549	lung
42	chr1:154302200-154303600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:154302200-154303600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:154302200-154303600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:154302200-154312200	Weak transcription	Gastric	stomach
46	chr1:154302200-154312600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:154302200-154322400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:154302400-154303000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr1:154302400-154303000	Weak transcription	Brain Substantia Nigra	brain
50	chr1:154302400-154303000	Weak transcription	GM12878-XiMat	blood

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