Variant report

Variant	rs5997527
Chromosome Location	chr22:30194285-30194286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30186308..30188642-chr22:30191729..30194768,3	K562	blood:
2	chr22:30185624..30189974-chr22:30192313..30194980,5	MCF-7	breast:
3	chr22:30191639..30194644-chr22:30194985..30199113,4	K562	blood:
4	chr22:30161539..30163655-chr22:30194119..30196895,2	K562	blood:
5	chr22:30191545..30194644-chr22:30195667..30197802,3	K562	blood:
6	chr22:30192738..30197507-chr22:30207918..30212414,7	MCF-7	breast:
7	chr22:30167944..30169824-chr22:30191784..30194571,2	MCF-7	breast:
8	chr22:30189139..30191071-chr22:30192199..30195286,3	K562	blood:
9	chr22:30193309..30197041-chr22:30202385..30207780,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100319	Chromatin interaction
ENSG00000184076	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12160803	1.00[AFR][1000 genomes]
rs28534024	1.00[AFR][1000 genomes]
rs34631511	1.00[AFR][1000 genomes]
rs5997525	1.00[AFR][1000 genomes]
rs5997528	1.00[AFR][1000 genomes]
rs5997554	1.00[AFR][1000 genomes]
rs6006277	1.00[AFR][1000 genomes]
rs6006279	1.00[AFR][1000 genomes]
rs6006281	1.00[AFR][1000 genomes]
rs6006285	1.00[AFR][1000 genomes]
rs6006290	1.00[AFR][1000 genomes]
rs6006312	1.00[AFR][1000 genomes]
rs6006316	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30166800-30194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:30181200-30196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:30181200-30196200	Weak transcription	Fetal Heart	heart
5	chr22:30182000-30194600	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
7	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
8	chr22:30182600-30194800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr22:30182800-30194400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:30182800-30194600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:30182800-30194600	Strong transcription	Stomach Smooth Muscle	stomach
12	chr22:30182800-30204600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:30182800-30204800	Strong transcription	Fetal Brain Female	brain
14	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
15	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
16	chr22:30183000-30194400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:30183000-30194400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:30183000-30194400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr22:30183200-30194600	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr22:30183200-30197000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr22:30183400-30204800	Strong transcription	Brain Germinal Matrix	brain
24	chr22:30183400-30224000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr22:30183600-30194400	Strong transcription	Dnd41	blood
27	chr22:30183600-30194600	Strong transcription	Brain Cingulate Gyrus	brain
28	chr22:30183800-30194400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:30183800-30194400	Strong transcription	Brain Angular Gyrus	brain
30	chr22:30183800-30204800	Strong transcription	Ovary	ovary
31	chr22:30183800-30205000	Strong transcription	Fetal Intestine Large	intestine
32	chr22:30183800-30205200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr22:30183800-30224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr22:30184000-30194600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:30184000-30198400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr22:30184000-30204800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr22:30184000-30222200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:30184200-30194400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr22:30185600-30195000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr22:30186400-30194400	Weak transcription	K562	blood
42	chr22:30186600-30199800	Weak transcription	Fetal Kidney	kidney
43	chr22:30188600-30194400	Weak transcription	NHDF-Ad	bronchial
44	chr22:30189000-30194600	Weak transcription	HUVEC	blood vessel
45	chr22:30189400-30195600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr22:30189400-30196200	Weak transcription	Fetal Brain Male	brain
47	chr22:30189400-30197200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr22:30189600-30201000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr22:30189600-30201800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:30189800-30194400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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