Variant report

Variant	rs71331231
Chromosome Location	chr22:30629786-30629787
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	chr22:30622143..30623687-chr22:30628092..30630588,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs71331230	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73881415	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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	66 gene(s)	inside rSNPs	diseases
4	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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	51 gene(s)	inside rSNPs	diseases
7	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30625200-30630600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr22:30625200-30631200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:30625200-30637000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr22:30625400-30630800	Weak transcription	Esophagus	oesophagus
5	chr22:30625400-30630800	Weak transcription	Hela-S3	cervix
6	chr22:30625400-30632200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:30625600-30630600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:30625600-30630800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:30625600-30630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr22:30625600-30631000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:30625600-30631000	Weak transcription	Lung	lung
12	chr22:30625600-30631000	Weak transcription	Spleen	Spleen
13	chr22:30625800-30630600	Weak transcription	HMEC	breast
14	chr22:30626200-30631000	Weak transcription	Gastric	stomach
15	chr22:30628200-30629800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:30628400-30629800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr22:30628400-30629800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr22:30628400-30630000	Enhancers	NH-A	brain
19	chr22:30628400-30632600	Enhancers	Fetal Lung	lung
20	chr22:30628600-30630000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr22:30628600-30630000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr22:30628600-30630200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr22:30628600-30630600	Weak transcription	Fetal Kidney	kidney
24	chr22:30628600-30631400	Enhancers	A549	lung
25	chr22:30628800-30629800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:30628800-30629800	Enhancers	Osteobl	bone
27	chr22:30628800-30630000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr22:30628800-30630800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr22:30628800-30630800	Weak transcription	Fetal Intestine Large	intestine
30	chr22:30628800-30631000	Enhancers	HSMM	muscle
31	chr22:30629000-30629800	Enhancers	Placenta	Placenta
32	chr22:30629000-30630000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:30629000-30630600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr22:30629000-30630800	Weak transcription	Fetal Intestine Small	intestine
35	chr22:30629000-30631000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:30629200-30629800	Enhancers	HSMMtube	muscle
37	chr22:30629200-30630000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:30629200-30630600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr22:30629200-30631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:30629200-30631800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr22:30629400-30630000	Enhancers	Fetal Stomach	stomach
42	chr22:30629400-30630600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr22:30629400-30630800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr22:30629400-30630800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr22:30629400-30630800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr22:30629400-30631000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:30629400-30631600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr22:30629600-30630600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:30629600-30630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr22:30629600-30630800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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