Variant report

Variant	rs11912710
Chromosome Location	chr22:22171102-22171103
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	chr22:22134116..22136199-chr22:22168473..22171209,2	K562	blood:
2	chr22:22151929..22155942-chr22:22170786..22174182,4	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11913453	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11914029	1.00[AFR][1000 genomes]
rs17759568	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2276008	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs34431893	0.91[AFR][1000 genomes]
rs55671725	0.84[AFR][1000 genomes]
rs55899028	0.91[AFR][1000 genomes]
rs56070517	0.91[AFR][1000 genomes]
rs5749811	1.00[YRI][hapmap]
rs57917247	0.91[AFR][1000 genomes]
rs57972001	1.00[AFR][1000 genomes]
rs58437134	1.00[AFR][1000 genomes]
rs58549474	0.91[AFR][1000 genomes]
rs59520604	1.00[AFR][1000 genomes]
rs60997543	0.84[AFR][1000 genomes]
rs61348040	0.91[AFR][1000 genomes]
rs61757984	0.91[AFR][1000 genomes]
rs66471117	0.91[AFR][1000 genomes]
rs66805823	0.84[AFR][1000 genomes]
rs73382365	0.91[AFR][1000 genomes]
rs73384128	0.91[AFR][1000 genomes]
rs73386248	1.00[AFR][1000 genomes]
rs73386249	1.00[AFR][1000 genomes]
rs73386266	0.82[AFR][1000 genomes]
rs73386270	0.82[AFR][1000 genomes]
rs73386291	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
2	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
3	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
4	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
5	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
6	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
7	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
12	esv1795495	chr22:22131125-22204916	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv914470	chr22:22131125-22272737	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1059265	chr22:22131125-22457154	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	esv3379268	chr22:22135347-22446281	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	esv3385441	chr22:22135777-22320294	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	esv2752404	chr22:22141825-22570417	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
18	esv2422277	chr22:22144108-22442159	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv2422295	chr22:22144108-22442159	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
20	esv2422374	chr22:22152248-22595246	Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
21	esv2422403	chr22:22152248-23112582	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
22	nsv1062641	chr22:22157661-22367697	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
23	esv2422390	chr22:22157964-23112582	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
24	nsv914471	chr22:22165557-22272737	Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:22121600-22171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:22139200-22172800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr22:22160000-22171600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:22160400-22171200	Weak transcription	Right Ventricle	heart
6	chr22:22160600-22171800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:22160600-22172800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:22160800-22171400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:22160800-22171400	Weak transcription	Gastric	stomach
10	chr22:22160800-22172400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr22:22161000-22171400	Weak transcription	Esophagus	oesophagus
12	chr22:22161400-22173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:22161600-22182000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr22:22162000-22171400	Weak transcription	Liver	Liver
15	chr22:22162000-22171400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr22:22162000-22171400	Weak transcription	Ovary	ovary
17	chr22:22162000-22172600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr22:22162000-22172800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:22162200-22171200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:22162200-22171200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:22162200-22172200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr22:22162200-22178600	Weak transcription	HepG2	liver
23	chr22:22162400-22172200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr22:22162400-22172400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr22:22162400-22177800	Weak transcription	Aorta	Aorta
26	chr22:22162600-22172800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr22:22162800-22171600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr22:22162800-22173000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr22:22164400-22171400	Weak transcription	Right Atrium	heart
30	chr22:22164600-22172600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr22:22165400-22171400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:22165600-22173000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:22166600-22173400	Weak transcription	Fetal Brain Female	brain
34	chr22:22166800-22172800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:22167600-22171200	Enhancers	Primary B cells from peripheral blood	blood
36	chr22:22168200-22171200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr22:22168400-22171200	Weak transcription	Psoas Muscle	Psoas
38	chr22:22168600-22171200	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr22:22168800-22171200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr22:22168800-22171200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr22:22169400-22171200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr22:22169600-22171200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr22:22169600-22171200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr22:22169600-22171200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr22:22169600-22171200	Enhancers	Adipose Nuclei	Adipose
46	chr22:22169800-22171200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr22:22169800-22171400	Weak transcription	Left Ventricle	heart
48	chr22:22169800-22173200	Enhancers	Fetal Muscle Leg	muscle
49	chr22:22169800-22175000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr22:22170000-22171200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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