Variant report

Variant	rs72908214
Chromosome Location	chr2:173722538-173722539
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	chr2:173722399-173722568	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173678876..173681431-chr2:173720731..173722829,2	MCF-7	breast:

Variant related genes	Relation type
RAPGEF4	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10514633	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1104635	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17704262	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17704332	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17704976	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17705358	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17705390	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17705429	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17705626	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17705739	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17705834	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17705852	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17706174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17706349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17706854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17706880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17755063	0.90[EUR][1000 genomes]
rs17755348	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17756405	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17756703	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17756739	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17756834	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17756942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17757877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2247800	0.93[ASN][1000 genomes]
rs72900203	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72900214	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72900223	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72900226	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72900228	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72900229	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72900230	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72900235	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72900240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72900243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72900248	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72902287	0.90[EUR][1000 genomes]
rs72902296	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72906101	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72906193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72906194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72906196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908114	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908118	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908120	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72908147	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908174	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908191	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908195	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908196	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908198	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908199	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908218	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72908230	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72908285	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7420491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs951314	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs951315	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173689200-173723200	Weak transcription	Esophagus	oesophagus
2	chr2:173719800-173724400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:173720000-173723000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:173720000-173723200	Weak transcription	Brain Anterior Caudate	brain
5	chr2:173721200-173722800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:173721200-173723000	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:173721400-173722800	Enhancers	NHEK	skin
8	chr2:173721400-173724000	Enhancers	Hela-S3	cervix
9	chr2:173721600-173726000	Weak transcription	Gastric	stomach
10	chr2:173722000-173724200	Weak transcription	Fetal Intestine Small	intestine
11	chr2:173722000-173724400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:173722200-173722600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:173722200-173723000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:173722200-173723400	Enhancers	Pancreas	Pancrea
15	chr2:173722200-173723600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:173722200-173724800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:173722200-173727400	Enhancers	Fetal Heart	heart
18	chr2:173722400-173723400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:173722400-173723800	Enhancers	Cortex derived primary cultured neurospheres	brain

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