Variant report

Variant	rs12111933
Chromosome Location	chr7:104526956-104526957
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104525898..104527468-chr7:104529410..104531951,2	K562	blood:
2	chr7:104523347..104526293-chr7:104526937..104529454,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10271917	1.00[EUR][1000 genomes]
rs2470962	1.00[AMR][1000 genomes]
rs28551701	1.00[EUR][1000 genomes]
rs4431535	1.00[AMR][1000 genomes]
rs4623345	1.00[AMR][1000 genomes]
rs4730046	1.00[AMR][1000 genomes]
rs6958342	1.00[AMR][1000 genomes]
rs73713046	1.00[EUR][1000 genomes]
rs73714133	1.00[EUR][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	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv981792	chr7:104524351-104538104	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104524200-104531800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:104524600-104531800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:104524600-104532200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:104524800-104527000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:104524800-104527400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:104524800-104530600	Weak transcription	Right Atrium	heart
7	chr7:104524800-104534600	Weak transcription	Fetal Kidney	kidney
8	chr7:104524800-104535200	Weak transcription	Colonic Mucosa	Colon
9	chr7:104524800-104540800	Weak transcription	Brain Anterior Caudate	brain
10	chr7:104525000-104527800	Weak transcription	Fetal Heart	heart
11	chr7:104525000-104527800	Weak transcription	Fetal Stomach	stomach
12	chr7:104525000-104531200	Weak transcription	Pancreas	Pancrea
13	chr7:104525400-104527400	Weak transcription	Fetal Lung	lung
14	chr7:104525400-104534600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:104525400-104540400	Weak transcription	Brain Substantia Nigra	brain
16	chr7:104525600-104527400	Weak transcription	Fetal Intestine Large	intestine
17	chr7:104525600-104528400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:104525600-104534400	Strong transcription	Fetal Intestine Small	intestine
19	chr7:104525800-104530000	Weak transcription	GM12878-XiMat	blood
20	chr7:104526000-104528200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:104526600-104527800	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links