Variant report

Variant	rs11703916
Chromosome Location	chr22:30718730-30718731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30716894..30719257-chr22:30719729..30722601,2	MCF-7	breast:
2	chr22:30715065..30719307-chr22:30719404..30722412,5	K562	blood:
3	chr22:30710430..30716803-chr22:30717996..30724228,10	MCF-7	breast:
4	chr22:30715105..30720415-chr22:30721123..30724883,5	MCF-7	breast:
5	chr22:30712323..30715013-chr22:30718534..30720994,2	K562	blood:
6	chr22:30711964..30715013-chr22:30717133..30720994,3	K562	blood:

Variant related genes	Relation type
ENSG00000099992	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11089445	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11704284	0.97[EUR][1000 genomes]
rs11705056	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11705290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35092409	0.80[EUR][1000 genomes]
rs41281641	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs45595946	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55721524	0.95[EUR][1000 genomes]
rs56059256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56147342	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56148580	0.97[EUR][1000 genomes]
rs56186404	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30686200-30720000	Weak transcription	Fetal Brain Male	brain
2	chr22:30705000-30720400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:30706000-30719400	Genic enhancers	Dnd41	blood
4	chr22:30706200-30720000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:30706600-30720400	Genic enhancers	Fetal Thymus	thymus
6	chr22:30707400-30720800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:30707800-30720400	Weak transcription	Fetal Lung	lung
8	chr22:30707800-30720800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:30709600-30720600	Strong transcription	Fetal Stomach	stomach
10	chr22:30710200-30719800	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr22:30710400-30720800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr22:30710400-30720800	Weak transcription	Fetal Kidney	kidney
13	chr22:30710600-30720400	Weak transcription	Brain Hippocampus Middle	brain
14	chr22:30711200-30720200	Weak transcription	Small Intestine	intestine
15	chr22:30711400-30719400	Weak transcription	NH-A	brain
16	chr22:30711800-30721200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr22:30712000-30721000	Weak transcription	A549	lung
18	chr22:30712600-30718800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr22:30713800-30719800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr22:30713800-30721000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:30714400-30719400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:30715000-30720200	Genic enhancers	Placenta	Placenta
23	chr22:30715200-30720400	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr22:30715400-30720000	Weak transcription	HepG2	liver
25	chr22:30715400-30720200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:30715600-30719400	Genic enhancers	Primary T cells from cord blood	blood
27	chr22:30715800-30720000	Weak transcription	Stomach Mucosa	stomach
28	chr22:30716000-30720000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr22:30716000-30720000	Weak transcription	Brain Substantia Nigra	brain
30	chr22:30716000-30720600	Weak transcription	Fetal Heart	heart
31	chr22:30716400-30720200	Weak transcription	Primary B cells from cord blood	blood
32	chr22:30716400-30720400	Weak transcription	Colonic Mucosa	Colon
33	chr22:30716800-30719400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr22:30716800-30720000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:30716800-30720000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr22:30717000-30719200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr22:30717000-30719200	Weak transcription	HSMM	muscle
38	chr22:30717000-30719600	Weak transcription	Fetal Intestine Large	intestine
39	chr22:30717000-30720000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr22:30717000-30720200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr22:30717000-30720600	Weak transcription	Fetal Brain Female	brain
42	chr22:30717200-30719600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr22:30717200-30719800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr22:30717200-30720000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr22:30717200-30720000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr22:30717400-30719800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:30717400-30720000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr22:30717400-30720200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr22:30717400-30720200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr22:30717400-30720400	Weak transcription	HMEC	breast

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