Variant report

Variant	rs6692661
Chromosome Location	chr1:154839793-154839794
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154831109..154833831-chr1:154838313..154840043,2	MCF-7	breast:
2	chr1:154837856..154840689-chr1:154908471..154910619,2	MCF-7	breast:
3	chr1:154574246..154575826-chr1:154839450..154841062,2	K562	blood:

Variant related genes	Relation type
ENSG00000143603	Chromatin interaction
ENSG00000160710	Chromatin interaction
ENSG00000163344	Chromatin interaction
ENSG00000270361	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12059540	1.00[EUR][1000 genomes]
rs12063335	1.00[EUR][1000 genomes]
rs12067954	1.00[EUR][1000 genomes]
rs60537431	1.00[EUR][1000 genomes]
rs72993366	1.00[EUR][1000 genomes]
rs72993369	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993370	1.00[EUR][1000 genomes]
rs72993373	1.00[EUR][1000 genomes]
rs72993374	1.00[EUR][1000 genomes]
rs72993402	0.85[EUR][1000 genomes]
rs72995417	1.00[EUR][1000 genomes]
rs72995418	1.00[EUR][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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv29982	chr1:154818353-154882544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv432964	chr1:154820067-154849590	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv432953	chr1:154820067-154855055	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv464073	chr1:154837796-154904840	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv547960	chr1:154837796-154904840	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154831200-154839800	Enhancers	Psoas Muscle	Psoas
2	chr1:154832400-154840000	Enhancers	K562	blood
3	chr1:154833200-154839800	Weak transcription	Left Ventricle	heart
4	chr1:154835400-154840000	Flanking Active TSS	GM12878-XiMat	blood
5	chr1:154836400-154840600	Enhancers	Spleen	Spleen
6	chr1:154836400-154841600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
7	chr1:154836600-154840600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr1:154837200-154842200	Active TSS	Colon Smooth Muscle	Colon
9	chr1:154837600-154839800	Flanking Active TSS	Fetal Brain Female	brain
10	chr1:154837800-154839800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:154837800-154840400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:154838200-154840000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr1:154838400-154839800	Active TSS	Rectal Smooth Muscle	rectum
14	chr1:154838400-154842400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr1:154838600-154840200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:154838600-154840200	Bivalent Enhancer	Fetal Lung	lung
17	chr1:154838600-154841600	Weak transcription	Pancreas	Pancrea
18	chr1:154838800-154839800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
19	chr1:154838800-154839800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr1:154839000-154839800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
21	chr1:154839000-154839800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr1:154839000-154839800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr1:154839000-154839800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:154839000-154839800	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr1:154839000-154840000	Flanking Active TSS	HSMM	muscle
26	chr1:154839000-154840200	Active TSS	Brain Cingulate Gyrus	brain
27	chr1:154839000-154840400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:154839000-154840400	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr1:154839000-154840600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:154839000-154840800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
31	chr1:154839200-154839800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr1:154839200-154839800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:154839200-154839800	Bivalent Enhancer	Colonic Mucosa	Colon
34	chr1:154839200-154839800	Enhancers	Right Atrium	heart
35	chr1:154839200-154840000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:154839200-154840000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:154839200-154840000	Bivalent Enhancer	Placenta	Placenta
38	chr1:154839200-154840200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:154839200-154840200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr1:154839200-154840400	Enhancers	Right Ventricle	heart
41	chr1:154839200-154840600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:154839200-154840800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:154839200-154840800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:154839200-154840800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:154839200-154840800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr1:154839200-154841000	Enhancers	Lung	lung
47	chr1:154839200-154841200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:154839200-154841600	Active TSS	Brain Substantia Nigra	brain
49	chr1:154839200-154842600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr1:154839200-154843000	Active TSS	Brain Angular Gyrus	brain

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