Variant report

Variant	rs34930775
Chromosome Location	chr22:31658205-31658206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31644213..31647154-chr22:31656517..31658727,2	MCF-7	breast:
2	chr22:31657582..31659264-chr22:31672801..31675797,2	MCF-7	breast:
3	chr22:31647158..31653046-chr22:31656106..31660182,9	MCF-7	breast:
4	chr22:31655331..31658789-chr22:31661479..31663672,3	K562	blood:

Variant related genes	Relation type
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12157693	0.90[EUR][1000 genomes]
rs12157806	0.90[EUR][1000 genomes]
rs2240427	0.82[EUR][1000 genomes]
rs28639919	0.90[EUR][1000 genomes]
rs55638065	1.00[AMR][1000 genomes]
rs8138024	0.90[EUR][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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31644200-31665800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:31644600-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:31645000-31668400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:31645000-31668600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr22:31645000-31677600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr22:31645200-31667000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr22:31645400-31661800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:31650200-31666200	Strong transcription	HepG2	liver
9	chr22:31650200-31675600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr22:31650200-31679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:31650400-31660600	Strong transcription	Fetal Intestine Large	intestine
12	chr22:31650600-31676400	Weak transcription	Hela-S3	cervix
13	chr22:31651400-31670200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:31651600-31667000	Weak transcription	Fetal Heart	heart
15	chr22:31651800-31675800	Strong transcription	HMEC	breast
16	chr22:31652800-31659800	Strong transcription	Fetal Intestine Small	intestine
17	chr22:31652800-31675800	Strong transcription	NHEK	skin
18	chr22:31652800-31679400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:31653000-31667400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr22:31653400-31670200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr22:31653600-31660800	Strong transcription	Fetal Thymus	thymus
22	chr22:31653600-31665000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr22:31653600-31668400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr22:31653800-31665000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr22:31653800-31667800	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr22:31653800-31668600	Weak transcription	Fetal Brain Male	brain
27	chr22:31653800-31670800	Strong transcription	Primary T cells from cord blood	blood
28	chr22:31653800-31676200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr22:31654000-31659000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr22:31654000-31660400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:31654000-31660600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr22:31654000-31660600	Strong transcription	Primary B cells from cord blood	blood
33	chr22:31654000-31660600	Strong transcription	Dnd41	blood
34	chr22:31654000-31660800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr22:31654000-31664000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:31654000-31664800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr22:31654000-31665000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr22:31654000-31665400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:31654000-31668400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr22:31654000-31668400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr22:31654000-31668400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:31654000-31668800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr22:31654000-31669000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr22:31654000-31676400	Strong transcription	Thymus	Thymus
45	chr22:31654000-31680400	Strong transcription	Lung	lung
46	chr22:31654000-31685600	Strong transcription	Fetal Stomach	stomach
47	chr22:31654200-31658400	Strong transcription	Ovary	ovary
48	chr22:31654200-31659000	Strong transcription	Fetal Brain Female	brain
49	chr22:31654200-31660400	Strong transcription	Esophagus	oesophagus
50	chr22:31654200-31660600	Strong transcription	Colon Smooth Muscle	Colon

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