Variant report

Variant	rs67822554
Chromosome Location	chr15:83697020-83697021
allele	A/G
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	POLR2A	chr15:83696377-83697075	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83680389..83683296-chr15:83695802..83698729,2	MCF-7	breast:
2	chr15:83696728..83698760-chr15:83734270..83736863,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259767	TF binding region
ENSG00000260608	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000263643	Chromatin interaction
ENSG00000064726	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10400812	0.95[ASN][1000 genomes]
rs11858074	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591237	0.83[ASN][1000 genomes]
rs12592391	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593316	0.86[ASN][1000 genomes]
rs12899522	0.88[ASN][1000 genomes]
rs12900411	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901811	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12902721	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12903066	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12904695	0.95[ASN][1000 genomes]
rs12906027	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906626	0.95[ASN][1000 genomes]
rs12907032	0.95[ASN][1000 genomes]
rs12911706	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911891	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12913130	0.95[ASN][1000 genomes]
rs12917594	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13329195	0.95[ASN][1000 genomes]
rs13329269	0.88[ASN][1000 genomes]
rs17158127	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17507300	0.97[ASN][1000 genomes]
rs2084839	0.83[ASN][1000 genomes]
rs2381030	0.94[ASN][1000 genomes]
rs28485801	0.95[ASN][1000 genomes]
rs28580677	0.95[ASN][1000 genomes]
rs3087804	0.95[ASN][1000 genomes]
rs34869943	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35207081	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35627116	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36038412	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4079029	0.95[ASN][1000 genomes]
rs58329615	0.81[ASN][1000 genomes]
rs6603044	0.95[ASN][1000 genomes]
rs6603046	0.94[ASN][1000 genomes]
rs66606849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67482297	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7163516	0.89[ASN][1000 genomes]
rs7166645	0.94[ASN][1000 genomes]
rs7170547	0.94[ASN][1000 genomes]
rs7177599	0.95[ASN][1000 genomes]
rs7181169	0.95[ASN][1000 genomes]
rs750214	0.94[ASN][1000 genomes]
rs7757	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031896	0.97[ASN][1000 genomes]
rs8040457	0.94[ASN][1000 genomes]
rs8040998	0.95[ASN][1000 genomes]
rs9646239	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83681000-83700200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:83681000-83705000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:83681200-83698200	Weak transcription	NHLF	lung
4	chr15:83681200-83710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:83681400-83698000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:83681400-83698400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:83681600-83698200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:83681600-83698200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:83681600-83732000	Weak transcription	Stomach Mucosa	stomach
10	chr15:83682000-83708400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:83682200-83708600	Weak transcription	Fetal Heart	heart
12	chr15:83683000-83723000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr15:83683400-83726600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:83687000-83708200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:83687600-83698400	Weak transcription	Brain Substantia Nigra	brain
16	chr15:83687600-83701200	Weak transcription	Fetal Brain Female	brain
17	chr15:83687600-83709600	Weak transcription	Brain Angular Gyrus	brain
18	chr15:83688000-83698600	Weak transcription	NH-A	brain
19	chr15:83688800-83708800	Weak transcription	Fetal Brain Male	brain
20	chr15:83689200-83698200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:83689200-83698200	Weak transcription	Aorta	Aorta
22	chr15:83689200-83698200	Weak transcription	Esophagus	oesophagus
23	chr15:83689200-83698200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:83689200-83698200	Weak transcription	Small Intestine	intestine
25	chr15:83689200-83698200	Weak transcription	Spleen	Spleen
26	chr15:83689200-83698400	Weak transcription	Right Ventricle	heart
27	chr15:83689200-83705200	Weak transcription	Psoas Muscle	Psoas
28	chr15:83689400-83698200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:83689400-83698200	Weak transcription	Ovary	ovary
30	chr15:83689400-83705000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:83689400-83708600	Weak transcription	NHEK	skin
32	chr15:83689800-83698200	Weak transcription	Colonic Mucosa	Colon
33	chr15:83690000-83697200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr15:83690000-83708200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:83690000-83708800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr15:83690200-83697200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr15:83690400-83697200	Weak transcription	Osteobl	bone
38	chr15:83690400-83698200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr15:83690400-83708000	Weak transcription	Brain Germinal Matrix	brain
40	chr15:83690800-83698000	Weak transcription	Primary T cells from cord blood	blood
41	chr15:83690800-83698000	Weak transcription	Colon Smooth Muscle	Colon
42	chr15:83691600-83699000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr15:83692000-83698800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:83692000-83701200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:83692000-83702000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr15:83692200-83700000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:83692200-83701000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr15:83692200-83701800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr15:83692400-83699000	Strong transcription	A549	lung
50	chr15:83692400-83699200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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