Variant report

Variant	rs916341
Chromosome Location	chr22:29604130-29604131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29603086..29606057-chr22:29664265..29665857,2	MCF-7	breast:
2	chr22:29602636..29604550-chr22:29611942..29613555,2	K562	blood:

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11090561	0.92[ASN][1000 genomes]
rs12484227	0.98[ASN][1000 genomes]
rs12484888	1.00[ASN][1000 genomes]
rs12484912	1.00[ASN][1000 genomes]
rs12484942	1.00[ASN][1000 genomes]
rs12627935	0.90[ASN][1000 genomes]
rs12628053	1.00[ASN][1000 genomes]
rs12628113	1.00[ASN][1000 genomes]
rs12628212	1.00[ASN][1000 genomes]
rs12628310	1.00[ASN][1000 genomes]
rs12628475	1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs16987237	0.98[ASN][1000 genomes]
rs35405773	0.94[ASN][1000 genomes]
rs56132535	0.98[ASN][1000 genomes]
rs59125412	0.94[ASN][1000 genomes]
rs60307207	0.98[ASN][1000 genomes]
rs67133001	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73399031	1.00[ASN][1000 genomes]
rs73882489	0.92[ASN][1000 genomes]
rs73882490	0.94[ASN][1000 genomes]
rs73882499	1.00[ASN][1000 genomes]
rs8138012	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141926	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142082	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142429	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916342	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr22:29602200-29605800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr22:29602400-29605200	Weak transcription	Gastric	stomach
3	chr22:29602400-29605800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29602400-29606200	Flanking Active TSS	Fetal Brain Female	brain
5	chr22:29602800-29604200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr22:29602800-29604600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:29602800-29604600	Enhancers	Fetal Brain Male	brain
8	chr22:29602800-29604800	Enhancers	Lung	lung
9	chr22:29602800-29605200	Enhancers	Spleen	Spleen
10	chr22:29602800-29605600	Enhancers	Brain Substantia Nigra	brain
11	chr22:29602800-29611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:29602800-29616000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:29602800-29616000	Weak transcription	Ovary	ovary
14	chr22:29603000-29604200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:29603000-29604200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:29603000-29604400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr22:29603000-29604400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:29603000-29604600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:29603000-29604800	Enhancers	Brain Cingulate Gyrus	brain
20	chr22:29603000-29606000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr22:29603000-29606000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
22	chr22:29603000-29610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr22:29603200-29604600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr22:29603200-29604800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr22:29603200-29605800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr22:29603200-29605800	Genic enhancers	Fetal Stomach	stomach
27	chr22:29603400-29604400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:29603400-29604400	Weak transcription	Brain Germinal Matrix	brain
29	chr22:29603400-29605000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr22:29603400-29605000	Enhancers	Primary hematopoietic stem cells	blood
31	chr22:29603400-29605000	Enhancers	Pancreas	Pancrea
32	chr22:29603400-29605200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:29603400-29605400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr22:29603400-29606000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:29603400-29606000	Enhancers	Fetal Lung	lung
36	chr22:29603400-29608800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr22:29603400-29611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr22:29603600-29606000	Transcr. at gene 5' and 3'	Dnd41	blood
39	chr22:29603600-29606800	Weak transcription	Fetal Kidney	kidney
40	chr22:29603800-29604200	Enhancers	Brain Anterior Caudate	brain
41	chr22:29603800-29604200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr22:29603800-29604800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr22:29603800-29605800	Flanking Active TSS	GM12878-XiMat	blood
44	chr22:29603800-29612600	Weak transcription	Brain Angular Gyrus	brain
45	chr22:29604000-29604800	Enhancers	Fetal Thymus	thymus
46	chr22:29604000-29605800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr22:29604000-29606000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:29604000-29606200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:29604000-29606200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
50	chr22:29604000-29616200	Weak transcription	Thymus	Thymus

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