Variant report

Variant	rs5999704
Chromosome Location	chr22:22178791-22178792
allele	G/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	chr22:22177909..22178847-chr22:22292516..22293066,3	K562	blood:
3	chr22:22178466..22181415-chr22:22220315..22222347,3	MCF-7	breast:
4	chr22:22153675..22157233-chr22:22176291..22179467,3	K562	blood:

Variant related genes	Relation type
ENSG00000100030	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs16985625	1.00[EUR][1000 genomes]
rs171254	1.00[EUR][1000 genomes]
rs171276	1.00[EUR][1000 genomes]
rs238779	1.00[EUR][1000 genomes]
rs238780	1.00[EUR][1000 genomes]
rs240050	1.00[EUR][1000 genomes]
rs240052	1.00[EUR][1000 genomes]
rs240059	1.00[EUR][1000 genomes]
rs240063	1.00[EUR][1000 genomes]
rs240617	1.00[EUR][1000 genomes]
rs240618	1.00[EUR][1000 genomes]
rs240620	1.00[EUR][1000 genomes]
rs3810607	1.00[EUR][1000 genomes]
rs389929	1.00[EUR][1000 genomes]
rs462496	1.00[EUR][1000 genomes]
rs55710707	1.00[EUR][1000 genomes]
rs56031527	1.00[EUR][1000 genomes]
rs56091280	1.00[EUR][1000 genomes]
rs57001004	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57416050	1.00[EUR][1000 genomes]
rs57468132	1.00[EUR][1000 genomes]
rs57891800	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58541082	1.00[EUR][1000 genomes]
rs59312009	1.00[EUR][1000 genomes]
rs59378807	1.00[EUR][1000 genomes]
rs5999452	0.89[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999614	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999880	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999887	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999891	0.84[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6000479	1.00[EUR][1000 genomes]
rs6000497	1.00[EUR][1000 genomes]
rs60142295	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60882067	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61127309	1.00[EUR][1000 genomes]
rs61162606	1.00[EUR][1000 genomes]
rs61336350	1.00[EUR][1000 genomes]
rs61757985	1.00[EUR][1000 genomes]
rs6518997	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6519019	1.00[EUR][1000 genomes]
rs7284924	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7286970	1.00[EUR][1000 genomes]
rs73386262	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386274	1.00[EUR][1000 genomes]
rs73388136	1.00[EUR][1000 genomes]
rs73388154	1.00[EUR][1000 genomes]
rs73388182	1.00[EUR][1000 genomes]
rs73877678	1.00[EUR][1000 genomes]
rs73877693	1.00[EUR][1000 genomes]
rs743533	1.00[EUR][1000 genomes]
rs8136902	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8138018	1.00[EUR][1000 genomes]
rs8139215	0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:105 , 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	chr22:22171400-22186800	Weak transcription	A549	lung
3	chr22:22171600-22183600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr22:22171800-22181200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:22171800-22181600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr22:22172000-22182000	Weak transcription	Esophagus	oesophagus
7	chr22:22172200-22181400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:22172400-22186600	Weak transcription	HSMM	muscle
9	chr22:22172600-22186600	Weak transcription	Fetal Intestine Small	intestine
10	chr22:22173200-22189600	Weak transcription	Brain Germinal Matrix	brain
11	chr22:22173400-22178800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr22:22173800-22182000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:22173800-22186000	Weak transcription	Dnd41	blood
14	chr22:22173800-22189000	Weak transcription	Fetal Thymus	thymus
15	chr22:22174000-22179800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:22174000-22179800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr22:22174000-22181200	Weak transcription	Brain Substantia Nigra	brain
18	chr22:22174000-22181200	Weak transcription	Colon Smooth Muscle	Colon
19	chr22:22174000-22181600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr22:22174000-22181600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr22:22174000-22181600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr22:22174000-22182400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr22:22174000-22186800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:22174000-22186800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr22:22174000-22187200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr22:22174000-22191800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr22:22174200-22181600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:22174200-22186800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr22:22174200-22189200	Weak transcription	Fetal Stomach	stomach
30	chr22:22174600-22178800	Weak transcription	Brain Anterior Caudate	brain
31	chr22:22174600-22181400	Weak transcription	Brain Hippocampus Middle	brain
32	chr22:22174600-22187000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:22174600-22189200	Weak transcription	Small Intestine	intestine
34	chr22:22174600-22189800	Weak transcription	Primary T cells from cord blood	blood
35	chr22:22174600-22191800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr22:22174800-22179000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:22174800-22185800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr22:22174800-22186600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:22174800-22186600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr22:22175000-22182000	Weak transcription	Psoas Muscle	Psoas
41	chr22:22175000-22186600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:22175600-22179600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr22:22176200-22179600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr22:22176600-22180800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr22:22176600-22181800	Weak transcription	Spleen	Spleen
46	chr22:22176600-22182000	Weak transcription	Gastric	stomach
47	chr22:22176800-22180800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr22:22177000-22179400	Enhancers	Adipose Nuclei	Adipose
49	chr22:22177200-22179400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:22177200-22185200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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