Variant report

Variant	rs5994772
Chromosome Location	chr22:33936665-33936666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12628777	1.00[CHB][hapmap]
rs16992481	1.00[CHB][hapmap]
rs16992483	1.00[CHB][hapmap]
rs28619052	0.92[ASN][1000 genomes]
rs59151129	0.81[ASN][1000 genomes]
rs7291415	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv914983	chr22:33800119-34035034	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1060283	chr22:33809137-34043739	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv544684	chr22:33809137-34043739	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1057547	chr22:33810445-33939474	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1055791	chr22:33822226-34159536	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1065417	chr22:33823850-34053325	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
12	nsv933309	chr22:33825232-34053000	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
13	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
14	nsv917167	chr22:33852676-34137036	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1062832	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv544686	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv914986	chr22:33863218-33967289	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv914987	chr22:33920421-34047427	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33917400-33966800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:33918200-33939400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:33921400-33937400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:33929000-33956600	Weak transcription	Gastric	stomach
5	chr22:33931400-33957600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:33931600-33936800	Enhancers	Ovary	ovary
7	chr22:33934000-33937000	Enhancers	Fetal Intestine Large	intestine
8	chr22:33934200-33937600	Enhancers	Fetal Lung	lung
9	chr22:33934200-33937800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:33934200-33945000	Weak transcription	Esophagus	oesophagus
11	chr22:33934400-33939000	Enhancers	Adipose Nuclei	Adipose
12	chr22:33934600-33936800	Enhancers	Fetal Intestine Small	intestine
13	chr22:33934600-33936800	Enhancers	Psoas Muscle	Psoas
14	chr22:33934600-33937000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr22:33934600-33939000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:33935000-33936800	Enhancers	Fetal Kidney	kidney
17	chr22:33935200-33936800	Enhancers	Brain Angular Gyrus	brain
18	chr22:33935200-33937400	Enhancers	Fetal Heart	heart
19	chr22:33935400-33936800	Enhancers	Small Intestine	intestine
20	chr22:33935400-33936800	Enhancers	Stomach Mucosa	stomach
21	chr22:33935400-33937000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:33935400-33937000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:33935400-33937000	Enhancers	Colon Smooth Muscle	Colon
24	chr22:33935400-33940600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr22:33935600-33936800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr22:33935600-33936800	Enhancers	Fetal Muscle Leg	muscle
27	chr22:33935600-33936800	Enhancers	Fetal Stomach	stomach
28	chr22:33935600-33937000	Enhancers	Brain Substantia Nigra	brain
29	chr22:33935600-33937000	Enhancers	Left Ventricle	heart
30	chr22:33935600-33937000	Enhancers	Pancreas	Pancrea
31	chr22:33935800-33936800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:33935800-33937000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:33935800-33937000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr22:33935800-33937000	Enhancers	Lung	lung
35	chr22:33935800-33937200	Enhancers	Right Atrium	heart
36	chr22:33935800-33940400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr22:33936000-33936800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr22:33936000-33936800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:33936000-33936800	Enhancers	Brain Cingulate Gyrus	brain
40	chr22:33936000-33936800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr22:33936000-33936800	Enhancers	Fetal Brain Female	brain
42	chr22:33936000-33936800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr22:33936000-33936800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr22:33936000-33936800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr22:33936000-33936800	Enhancers	HSMMtube	muscle
46	chr22:33936000-33936800	Enhancers	NHDF-Ad	bronchial
47	chr22:33936000-33940600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr22:33936200-33936800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr22:33936200-33936800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr22:33936200-33937200	Enhancers	Right Ventricle	heart

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