Variant report

Variant	rs67091466
Chromosome Location	chr1:153704055-153704056
allele	C/TT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153651404..153652981-chr1:153702351..153704100,2	MCF-7	breast:
2	chr1:153702001..153704367-chr1:153721548..153723803,2	MCF-7	breast:
3	chr1:153698814..153704322-chr1:153719587..153724035,6	MCF-7	breast:
4	chr1:153702452..153705443-chr14:91165837..91167426,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143624	Chromatin interaction
ENSG00000243613	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11264342	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6427183	0.84[ASN][1000 genomes]
rs6698058	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7552428	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv547928	chr1:153612133-153714252	Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2830411	chr1:153613393-153725007	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1067771	chr1:153613593-153724866	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Enhancers Active TSS 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv530052	chr1:153613593-153724866	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv1005818	chr1:153613597-153724980	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv535173	chr1:153613597-153724980	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1007835	chr1:153613597-153729959	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv535174	chr1:153613597-153729959	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	nsv1011897	chr1:153613597-153836703	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
10	nsv464028	chr1:153622220-153723037	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv547929	chr1:153622220-153723037	Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	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
13	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
14	nsv1001312	chr1:153622834-153724867	Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv535176	chr1:153622834-153724867	Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
17	nsv1002328	chr1:153672031-153718746	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153701200-153716200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:153701400-153712400	Weak transcription	Ovary	ovary
3	chr1:153701600-153705800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:153701600-153712800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:153701800-153705000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:153701800-153711400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:153701800-153712800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:153701800-153713000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:153701800-153713200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:153702000-153706400	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:153702000-153706400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:153702000-153709600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:153702000-153711600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:153702000-153712800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:153702000-153712800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:153702000-153713000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:153702000-153713000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:153702000-153713000	Weak transcription	HSMM	muscle
19	chr1:153702000-153713000	Weak transcription	NH-A	brain
20	chr1:153702000-153713000	Weak transcription	NHEK	skin
21	chr1:153702000-153713200	Weak transcription	Gastric	stomach
22	chr1:153702000-153713200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:153702000-153713800	Weak transcription	Esophagus	oesophagus
24	chr1:153702200-153704600	Weak transcription	Osteobl	bone
25	chr1:153702200-153706000	Weak transcription	Placenta	Placenta
26	chr1:153702200-153706400	Weak transcription	Right Ventricle	heart
27	chr1:153702200-153707000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:153702200-153711800	Weak transcription	Lung	lung
29	chr1:153702200-153713000	Weak transcription	Left Ventricle	heart
30	chr1:153702400-153705000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:153702400-153706600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:153702400-153712800	Weak transcription	Brain Substantia Nigra	brain
33	chr1:153702400-153713200	Weak transcription	Colonic Mucosa	Colon
34	chr1:153702600-153704800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:153702600-153707200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:153702600-153707600	Weak transcription	Primary B cells from cord blood	blood
37	chr1:153702600-153712600	Weak transcription	Fetal Thymus	thymus
38	chr1:153702600-153712800	Weak transcription	Fetal Brain Female	brain
39	chr1:153702600-153713000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:153702600-153713000	Weak transcription	Pancreas	Pancrea
41	chr1:153702600-153713000	Weak transcription	HMEC	breast
42	chr1:153702600-153713000	Weak transcription	HSMMtube	muscle
43	chr1:153702600-153713800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:153702600-153714000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:153702800-153705000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:153702800-153706400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:153702800-153710000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:153702800-153711400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:153702800-153712600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:153702800-153712800	Weak transcription	Brain Inferior Temporal Lobe	brain

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