Variant report

Variant	rs8135875
Chromosome Location	chr22:31560824-31560825
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	chr22:31560770-31560827	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
MIR3928	TF binding region

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16989382	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4820945	0.81[AFR][1000 genomes]
rs4820946	0.81[AFR][1000 genomes]
rs56671772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58727240	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59592122	0.80[AFR][1000 genomes]
rs73390400	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8138024	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31557000-31569400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:31557000-31573000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31557000-31575200	Weak transcription	Esophagus	oesophagus
4	chr22:31557200-31561400	Weak transcription	Fetal Thymus	thymus
5	chr22:31557200-31568800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:31557200-31569400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:31557200-31591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:31557400-31561400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr22:31557400-31561600	Weak transcription	Lung	lung
10	chr22:31557400-31562200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:31557400-31565800	Weak transcription	Spleen	Spleen
12	chr22:31557400-31569200	Weak transcription	A549	lung
13	chr22:31557400-31575000	Weak transcription	Gastric	stomach
14	chr22:31557400-31579800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:31557400-31595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr22:31557400-31597800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr22:31557600-31561200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:31557600-31561400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:31557600-31564600	Weak transcription	Right Ventricle	heart
20	chr22:31557600-31575000	Weak transcription	Colonic Mucosa	Colon
21	chr22:31557600-31578600	Weak transcription	K562	blood
22	chr22:31557600-31591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr22:31557800-31561400	Weak transcription	Fetal Brain Female	brain
24	chr22:31557800-31561400	Weak transcription	GM12878-XiMat	blood
25	chr22:31557800-31564000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:31557800-31564200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr22:31557800-31568800	Weak transcription	Hela-S3	cervix
28	chr22:31557800-31569400	Weak transcription	Ovary	ovary
29	chr22:31557800-31587000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr22:31557800-31588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:31558000-31578000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:31558200-31561000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr22:31558200-31561200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr22:31558200-31563600	Weak transcription	Right Atrium	heart
35	chr22:31558200-31564200	Weak transcription	Brain Anterior Caudate	brain
36	chr22:31558200-31565000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr22:31558200-31573000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:31558200-31575000	Weak transcription	Stomach Mucosa	stomach
39	chr22:31558400-31561000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr22:31558400-31561200	Weak transcription	Primary B cells from cord blood	blood
41	chr22:31558400-31564000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr22:31558400-31568800	Weak transcription	HMEC	breast
43	chr22:31558400-31569200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr22:31558400-31573000	Weak transcription	Fetal Heart	heart
45	chr22:31558600-31561000	Weak transcription	HepG2	liver
46	chr22:31558600-31561000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr22:31558600-31561200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr22:31558600-31561200	Weak transcription	Brain Angular Gyrus	brain
49	chr22:31558600-31561200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr22:31558600-31561200	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links