Variant report

Variant	rs59444730
Chromosome Location	chr2:10907167-10907168
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11694946	1.00[EUR][1000 genomes]
rs16856628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4668698	1.00[EUR][1000 genomes]
rs59189612	1.00[EUR][1000 genomes]
rs60735401	1.00[EUR][1000 genomes]
rs60810333	1.00[EUR][1000 genomes]
rs61360105	1.00[EUR][1000 genomes]
rs73169975	1.00[EUR][1000 genomes]
rs7560564	1.00[EUR][1000 genomes]
rs7570055	1.00[EUR][1000 genomes]
rs7571129	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr2:10899800-10908200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:10903400-10908200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:10903400-10908200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:10903400-10914400	Weak transcription	Right Atrium	heart
5	chr2:10903600-10908200	Weak transcription	Right Ventricle	heart
6	chr2:10903600-10914400	Weak transcription	Gastric	stomach
7	chr2:10904200-10916400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:10904400-10908200	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:10904600-10916400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:10904800-10915200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:10905600-10907600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:10905600-10918000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:10906000-10914200	Weak transcription	Esophagus	oesophagus
14	chr2:10906200-10908000	Weak transcription	Hela-S3	cervix
15	chr2:10906200-10908400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:10906200-10918200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:10906200-10918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:10906400-10912200	Weak transcription	Placenta	Placenta
19	chr2:10906400-10913000	Weak transcription	Fetal Intestine Small	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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