Variant report

Variant	rs6683312
Chromosome Location	chr1:120159775-120159776
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	chr1:120159569..120162052-chr1:120189415..120191074,2	MCF-7	breast:
2	chr1:120154731..120156704-chr1:120158612..120160451,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143067	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs407839	1.00[AMR][1000 genomes]
rs56664402	1.00[AMR][1000 genomes]
rs58999264	1.00[AMR][1000 genomes]
rs60514812	1.00[AMR][1000 genomes]
rs6428838	1.00[AMR][1000 genomes]
rs6659336	1.00[AMR][1000 genomes]
rs6683300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692999	1.00[AMR][1000 genomes]
rs72997074	1.00[AMR][1000 genomes]
rs72999191	1.00[AMR][1000 genomes]
rs73001116	1.00[AMR][1000 genomes]
rs73001120	1.00[AMR][1000 genomes]
rs73001123	1.00[AMR][1000 genomes]
rs73003166	1.00[AMR][1000 genomes]
rs7530771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7552366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs894078	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv946186	chr1:120091427-120161787	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv2756860	chr1:120098661-120162442	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv463317	chr1:120107602-120162787	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv547618	chr1:120107602-120162787	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv872179	chr1:120131597-120162787	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120115200-120160800	Weak transcription	Gastric	stomach
2	chr1:120146200-120165000	Weak transcription	Aorta	Aorta
3	chr1:120147400-120160800	Weak transcription	Psoas Muscle	Psoas
4	chr1:120149600-120160800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:120151200-120160400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:120152200-120167800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:120153200-120164400	Weak transcription	Fetal Intestine Small	intestine
8	chr1:120153400-120160800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:120154400-120163400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:120154400-120167400	Weak transcription	Brain Substantia Nigra	brain
11	chr1:120154600-120163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:120154600-120164200	Weak transcription	Fetal Intestine Large	intestine
13	chr1:120154600-120165000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:120154600-120165000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:120154600-120165000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:120154800-120160200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:120154800-120164200	Weak transcription	Liver	Liver
18	chr1:120154800-120164600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:120154800-120164800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:120154800-120165000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:120154800-120165200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:120154800-120165400	Weak transcription	Fetal Brain Male	brain
23	chr1:120154800-120173600	Weak transcription	Brain Anterior Caudate	brain
24	chr1:120155200-120164200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:120156800-120160800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:120156800-120163000	Weak transcription	HUVEC	blood vessel
27	chr1:120156800-120163600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:120156800-120164600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:120156800-120165400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:120156800-120169800	Weak transcription	NHDF-Ad	bronchial
31	chr1:120156800-120173800	Weak transcription	Colonic Mucosa	Colon
32	chr1:120157000-120159800	Weak transcription	Ovary	ovary
33	chr1:120157000-120160200	Weak transcription	Fetal Stomach	stomach
34	chr1:120157000-120160800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:120157000-120160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:120157000-120160800	Weak transcription	Adipose Nuclei	Adipose
37	chr1:120157000-120161000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:120157000-120161800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:120157000-120164800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:120157200-120160000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:120157200-120160200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:120157200-120160600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:120157200-120160800	Weak transcription	Right Atrium	heart
44	chr1:120157200-120160800	Weak transcription	NHEK	skin
45	chr1:120157200-120165000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:120157200-120165200	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:120157200-120165400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:120157400-120167800	Weak transcription	Fetal Kidney	kidney
49	chr1:120157800-120162000	Enhancers	Fetal Muscle Leg	muscle
50	chr1:120158000-120160200	Weak transcription	Left Ventricle	heart

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