Variant report

Variant	rs16988044
Chromosome Location	chr22:30197603-30197604
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	chr22:30191545..30194644-chr22:30195667..30197802,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11090582	1.00[EUR][1000 genomes]
rs12166580	1.00[EUR][1000 genomes]
rs13057811	1.00[YRI][hapmap]
rs16988011	1.00[EUR][1000 genomes]
rs16988043	1.00[EUR][1000 genomes]
rs16988062	1.00[EUR][1000 genomes]
rs56783715	1.00[EUR][1000 genomes]
rs58113244	1.00[EUR][1000 genomes]
rs58538392	1.00[EUR][1000 genomes]
rs58643523	1.00[EUR][1000 genomes]
rs59172206	1.00[EUR][1000 genomes]
rs59237579	1.00[EUR][1000 genomes]
rs59422664	1.00[EUR][1000 genomes]
rs59542747	1.00[EUR][1000 genomes]
rs60020246	1.00[EUR][1000 genomes]
rs60965931	1.00[EUR][1000 genomes]
rs61432554	1.00[EUR][1000 genomes]
rs7286724	1.00[EUR][1000 genomes]
rs7290848	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73394816	1.00[EUR][1000 genomes]
rs73394842	1.00[EUR][1000 genomes]
rs9620930	1.00[EUR][1000 genomes]
rs9625869	1.00[EUR][1000 genomes]
rs9625890	1.00[EUR][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	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
3	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
4	chr22:30182800-30204600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:30182800-30204800	Strong transcription	Fetal Brain Female	brain
6	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
7	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
8	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr22:30183400-30204800	Strong transcription	Brain Germinal Matrix	brain
11	chr22:30183400-30224000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr22:30183800-30204800	Strong transcription	Ovary	ovary
14	chr22:30183800-30205000	Strong transcription	Fetal Intestine Large	intestine
15	chr22:30183800-30205200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr22:30183800-30224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr22:30184000-30198400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr22:30184000-30204800	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:30184000-30222200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:30186600-30199800	Weak transcription	Fetal Kidney	kidney
22	chr22:30189600-30201000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr22:30189600-30201800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:30189800-30201800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:30191000-30222200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr22:30191600-30198400	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr22:30192400-30198200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:30192600-30198400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:30193400-30217200	Strong transcription	Fetal Thymus	thymus
30	chr22:30194000-30197800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
31	chr22:30194000-30198000	Genic enhancers	Left Ventricle	heart
32	chr22:30194000-30198200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr22:30194000-30198400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
34	chr22:30194000-30198400	Genic enhancers	Gastric	stomach
35	chr22:30194000-30198600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr22:30194200-30198200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:30194200-30212200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr22:30194400-30197800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:30194400-30198400	Genic enhancers	Lung	lung
40	chr22:30194600-30198200	Genic enhancers	Stomach Mucosa	stomach
41	chr22:30194600-30198400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr22:30194800-30198000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr22:30195000-30197800	Genic enhancers	Fetal Lung	lung
44	chr22:30195000-30198200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr22:30195200-30198000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:30195200-30204600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:30195200-30204600	Strong transcription	Brain Anterior Caudate	brain
48	chr22:30195200-30204800	Strong transcription	Rectal Smooth Muscle	rectum
49	chr22:30195200-30205000	Strong transcription	Brain Cingulate Gyrus	brain
50	chr22:30195400-30199400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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