Variant report

Variant	rs41301192
Chromosome Location	chr1:84701414-84701415
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84699628..84701684-chr1:84763119..84765204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203943	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10874435	1.00[AMR][1000 genomes]
rs41301180	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41301182	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41301198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41301202	1.00[AMR][1000 genomes]
rs41301220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41301222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59133266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60249923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871643	chr1:84628655-84705481	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv871538	chr1:84633116-84717983	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv1816427	chr1:84670816-84715634	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv1823244	chr1:84670816-84715634	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv1824568	chr1:84670816-84715634	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	esv1822734	chr1:84678418-84715634	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	esv1845114	chr1:84678418-84715634	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	esv1851921	chr1:84678418-84715634	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84657600-84708000	Weak transcription	Left Ventricle	heart
2	chr1:84666800-84710200	Weak transcription	HSMMtube	muscle
3	chr1:84672600-84711200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:84675200-84712800	Weak transcription	NH-A	brain
5	chr1:84675800-84705000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:84685400-84705400	Weak transcription	HUVEC	blood vessel
7	chr1:84685400-84705600	Weak transcription	Brain Germinal Matrix	brain
8	chr1:84685600-84713400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:84690000-84719400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:84690200-84707400	Weak transcription	Right Ventricle	heart
11	chr1:84690400-84702600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:84690400-84705000	Weak transcription	Aorta	Aorta
13	chr1:84690400-84711800	Weak transcription	Spleen	Spleen
14	chr1:84691200-84712200	Weak transcription	Pancreas	Pancrea
15	chr1:84691400-84705000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:84691400-84707000	Weak transcription	Fetal Stomach	stomach
17	chr1:84691600-84705000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:84697400-84705000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:84698600-84705400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:84699000-84707000	Weak transcription	Psoas Muscle	Psoas
21	chr1:84699600-84713000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:84699800-84711600	Weak transcription	A549	lung
23	chr1:84700200-84702800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:84700400-84702200	Strong transcription	Thymus	Thymus
25	chr1:84700400-84706200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:84700600-84701800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:84700600-84701800	Strong transcription	Brain Anterior Caudate	brain
28	chr1:84700600-84701800	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr1:84700600-84701800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr1:84700600-84702000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:84700600-84702000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:84700600-84702600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:84700600-84702800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:84700600-84703400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:84700600-84705800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr1:84700600-84705800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:84700600-84705800	Strong transcription	Brain Hippocampus Middle	brain
38	chr1:84700600-84706000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:84700600-84706200	Strong transcription	Fetal Thymus	thymus
40	chr1:84700600-84706200	Strong transcription	Dnd41	blood
41	chr1:84700600-84706600	Strong transcription	Primary T cells from cord blood	blood
42	chr1:84700600-84706600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr1:84700800-84701800	Strong transcription	Fetal Intestine Large	intestine
44	chr1:84700800-84701800	Strong transcription	Fetal Lung	lung
45	chr1:84700800-84702200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:84700800-84702600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:84700800-84702800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:84700800-84705600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:84700800-84706200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:84701000-84701600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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