Variant report

Variant	rs8140233
Chromosome Location	chr22:22177299-22177300
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:22108974..22111937-chr22:22177165..22178956,2	K562	blood:
2	chr22:22176566..22178590-chr22:22185537..22187516,2	MCF-7	breast:
3	chr22:22153675..22157233-chr22:22176291..22179467,3	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10427813	1.00[ASN][1000 genomes]
rs1103229	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1530229	1.00[ASN][1000 genomes]
rs1647705	1.00[ASN][1000 genomes]
rs1647711	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1669123	1.00[ASN][1000 genomes]
rs17759598	1.00[ASN][1000 genomes]
rs17759796	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821327	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17821500	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821818	1.00[ASN][1000 genomes]
rs17821866	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2329886	1.00[ASN][1000 genomes]
rs238781	1.00[ASN][1000 genomes]
rs238782	1.00[ASN][1000 genomes]
rs239914	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs239915	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs239916	1.00[ASN][1000 genomes]
rs239920	1.00[ASN][1000 genomes]
rs240065	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2845458	1.00[ASN][1000 genomes]
rs28721456	1.00[ASN][1000 genomes]
rs2876980	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs34239349	1.00[ASN][1000 genomes]
rs412050	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs413815	1.00[ASN][1000 genomes]
rs55649326	1.00[ASN][1000 genomes]
rs56138298	1.00[ASN][1000 genomes]
rs56226933	1.00[ASN][1000 genomes]
rs5999842	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6000236	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs61757982	1.00[ASN][1000 genomes]
rs61763381	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61763388	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs710171	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs710176	1.00[ASN][1000 genomes]
rs717121	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73149918	1.00[ASN][1000 genomes]
rs73149929	1.00[ASN][1000 genomes]
rs735244	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8135616	1.00[CHB][hapmap]
rs8135758	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8136405	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139395	1.00[ASN][1000 genomes]
rs8142650	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861811	1.00[ASN][1000 genomes]
rs861818	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs861820	1.00[ASN][1000 genomes]
rs861821	1.00[ASN][1000 genomes]
rs861828	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs861829	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs861831	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs861832	1.00[ASN][1000 genomes]
rs861833	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs861840	1.00[ASN][1000 genomes]
rs861841	1.00[ASN][1000 genomes]
rs861844	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs861845	1.00[ASN][1000 genomes]
rs861846	1.00[ASN][1000 genomes]
rs861850	1.00[CHB][hapmap]
rs861854	1.00[CHB][hapmap]
rs861855	1.00[CHB][hapmap]
rs881091	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9607194	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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
25	esv2763701	chr22:22173533-22573987	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22161600-22182000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:22162200-22178600	Weak transcription	HepG2	liver
3	chr22:22162400-22177800	Weak transcription	Aorta	Aorta
4	chr22:22171400-22186800	Weak transcription	A549	lung
5	chr22:22171600-22183600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr22:22171800-22178400	Weak transcription	Stomach Mucosa	stomach
7	chr22:22171800-22181200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr22:22171800-22181600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr22:22172000-22177800	Weak transcription	Liver	Liver
10	chr22:22172000-22182000	Weak transcription	Esophagus	oesophagus
11	chr22:22172200-22177800	Weak transcription	Thymus	Thymus
12	chr22:22172200-22181400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:22172400-22177800	Weak transcription	NHLF	lung
14	chr22:22172400-22178200	Weak transcription	Osteobl	bone
15	chr22:22172400-22178400	Weak transcription	GM12878-XiMat	blood
16	chr22:22172400-22186600	Weak transcription	HSMM	muscle
17	chr22:22172600-22177800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr22:22172600-22178600	Weak transcription	NHEK	skin
19	chr22:22172600-22186600	Weak transcription	Fetal Intestine Small	intestine
20	chr22:22173000-22177600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:22173200-22177800	Weak transcription	NHDF-Ad	bronchial
22	chr22:22173200-22189600	Weak transcription	Brain Germinal Matrix	brain
23	chr22:22173400-22177800	Weak transcription	Right Atrium	heart
24	chr22:22173400-22178200	Weak transcription	Brain Angular Gyrus	brain
25	chr22:22173400-22178400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:22173400-22178400	Weak transcription	NH-A	brain
27	chr22:22173400-22178800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr22:22173600-22178600	Weak transcription	Fetal Heart	heart
29	chr22:22173800-22177600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr22:22173800-22177800	Weak transcription	Right Ventricle	heart
31	chr22:22173800-22182000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:22173800-22186000	Weak transcription	Dnd41	blood
33	chr22:22173800-22189000	Weak transcription	Fetal Thymus	thymus
34	chr22:22174000-22177800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr22:22174000-22177800	Weak transcription	HSMMtube	muscle
36	chr22:22174000-22178400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr22:22174000-22178600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr22:22174000-22179800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:22174000-22179800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr22:22174000-22181200	Weak transcription	Brain Substantia Nigra	brain
41	chr22:22174000-22181200	Weak transcription	Colon Smooth Muscle	Colon
42	chr22:22174000-22181600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr22:22174000-22181600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr22:22174000-22181600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:22174000-22182400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr22:22174000-22186800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:22174000-22186800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr22:22174000-22187200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr22:22174000-22191800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr22:22174200-22177800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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