Variant report

Variant	rs7999644
Chromosome Location	chr13:30799362-30799363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30796832..30799585-chr13:30801538..30805408,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17632920	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17633024	0.98[ASN][1000 genomes]
rs17689474	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17689523	0.98[ASN][1000 genomes]
rs2277450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213617	0.89[ASN][1000 genomes]
rs61946929	0.82[ASN][1000 genomes]
rs73163465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73163468	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73163469	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73163472	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73163474	0.98[ASN][1000 genomes]
rs7327725	0.80[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	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30765600-30807000	Weak transcription	Gastric	stomach
2	chr13:30766400-30804400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr13:30770600-30803200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:30774400-30812600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr13:30774600-30802800	Weak transcription	Lung	lung
6	chr13:30774600-30805200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:30775000-30803000	Weak transcription	Esophagus	oesophagus
8	chr13:30780200-30801000	Weak transcription	Pancreas	Pancrea
9	chr13:30790000-30807000	Weak transcription	Small Intestine	intestine
10	chr13:30791000-30802600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr13:30791000-30802600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr13:30791000-30807200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr13:30791000-30808800	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:30791000-30811600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:30791000-30831400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr13:30792400-30802600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr13:30794000-30801200	Weak transcription	Colon Smooth Muscle	Colon
18	chr13:30795000-30800000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr13:30795800-30805600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:30796200-30799400	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr13:30796200-30799600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr13:30796200-30799600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:30796200-30800400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr13:30796400-30799800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr13:30796400-30800000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:30796400-30801600	ZNF genes & repeats	Dnd41	blood
27	chr13:30796600-30799400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:30796600-30800000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
29	chr13:30796600-30800400	ZNF genes & repeats	Fetal Brain Female	brain
30	chr13:30796600-30807000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr13:30796600-30808600	Weak transcription	Brain Substantia Nigra	brain
32	chr13:30796800-30800400	Weak transcription	HSMM	muscle
33	chr13:30796800-30802800	Weak transcription	Fetal Intestine Large	intestine
34	chr13:30796800-30802800	Weak transcription	K562	blood
35	chr13:30796800-30831400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:30797000-30800800	Weak transcription	HUVEC	blood vessel
37	chr13:30797000-30808600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr13:30797000-30823400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr13:30797200-30802800	Weak transcription	Fetal Intestine Small	intestine
40	chr13:30797400-30802800	Weak transcription	Fetal Stomach	stomach
41	chr13:30797800-30814800	Weak transcription	Placenta	Placenta
42	chr13:30798400-30799400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:30798400-30799400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:30798400-30799400	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr13:30798400-30799400	ZNF genes & repeats	Left Ventricle	heart
46	chr13:30798400-30799400	ZNF genes & repeats	Right Ventricle	heart
47	chr13:30798400-30799600	ZNF genes & repeats	Thymus	Thymus
48	chr13:30798600-30799400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:30798600-30799600	Enhancers	A549	lung
50	chr13:30798600-30799600	Enhancers	NHEK	skin

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