Variant report

Variant	rs149588287
Chromosome Location	chr22:30722718-30722719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30720936..30724991-chr22:30750350..30754449,10	MCF-7	breast:
2	chr22:30720496..30722809-chr22:30723809..30726893,3	MCF-7	breast:
3	chr22:30692849..30696422-chr22:30721996..30724187,4	MCF-7	breast:
4	chr22:30641352..30643505-chr22:30721621..30724253,3	MCF-7	breast:
5	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
6	chr22:30692473..30695111-chr22:30722676..30724964,2	K562	blood:
7	chr22:30710430..30716803-chr22:30717996..30724228,10	MCF-7	breast:
8	chr22:30719395..30724233-chr22:30750032..30754717,7	MCF-7	breast:
9	chr22:30721434..30723843-chr22:30737479..30740425,2	K562	blood:
10	chr22:30683831..30686273-chr22:30722432..30724567,2	K562	blood:
11	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
12	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
13	chr22:30722006..30724246-chr22:30752442..30754508,2	K562	blood:
14	chr22:30701046..30703997-chr22:30721368..30724437,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248751	Chromatin interaction
ENSG00000128342	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000268812	Chromatin interaction
ENSG00000187860	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv984527	chr22:30698358-30732712	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv3593	chr22:30705980-30751122	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
7	esv3325406	chr22:30721477-30724325	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
8	esv3388243	chr22:30721827-30724050	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30721000-30723200	Active TSS	Psoas Muscle	Psoas
2	chr22:30721000-30723400	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr22:30721000-30723600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr22:30721400-30722800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
5	chr22:30721400-30722800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:30721600-30723200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr22:30721600-30723200	Active TSS	HSMMtube	muscle
8	chr22:30721600-30723400	Active TSS	Aorta	Aorta
9	chr22:30721600-30723400	Active TSS	Esophagus	oesophagus
10	chr22:30721800-30723200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr22:30721800-30723200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr22:30721800-30723200	Active TSS	Brain Angular Gyrus	brain
13	chr22:30721800-30723400	Active TSS	Fetal Kidney	kidney
14	chr22:30721800-30723600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr22:30722000-30723000	Active TSS	Small Intestine	intestine
16	chr22:30722000-30723200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr22:30722000-30723200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr22:30722000-30723200	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr22:30722000-30723200	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr22:30722000-30723200	Active TSS	Brain Anterior Caudate	brain
21	chr22:30722000-30723200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:30722000-30723200	Active TSS	Fetal Lung	lung
23	chr22:30722000-30723200	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr22:30722000-30723200	Active TSS	HSMM	muscle
25	chr22:30722000-30723200	Active TSS	NHDF-Ad	bronchial
26	chr22:30722000-30723200	Active TSS	NHEK	skin
27	chr22:30722000-30723200	Active TSS	NHLF	lung
28	chr22:30722000-30723400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:30722000-30723400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:30722000-30723400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr22:30722000-30723400	Active TSS	Gastric	stomach
32	chr22:30722000-30723400	Active TSS	Lung	lung
33	chr22:30722000-30723400	Active TSS	Ovary	ovary
34	chr22:30722000-30723400	Active TSS	Right Atrium	heart
35	chr22:30722000-30723400	Active TSS	Stomach Mucosa	stomach
36	chr22:30722000-30723600	Active TSS	H9 Cell Line	embryonic stem cell
37	chr22:30722000-30723600	Active TSS	GM12878-XiMat	blood
38	chr22:30722200-30723000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:30722200-30723000	Active TSS	Spleen	Spleen
40	chr22:30722200-30723000	Active TSS	Dnd41	blood
41	chr22:30722200-30723200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr22:30722200-30723200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:30722200-30723200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:30722200-30723200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:30722200-30723200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:30722200-30723200	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr22:30722200-30723200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:30722200-30723200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr22:30722200-30723200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr22:30722200-30723200	Active TSS	Primary T helper cells fromperipheralblood	blood

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