Variant report

Variant	rs131206
Chromosome Location	chr22:31723042-31723043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31717141..31720264-chr22:31721162..31724209,3	MCF-7	breast:
2	chr22:31685063..31688809-chr22:31720351..31723222,3	MCF-7	breast:
3	chr22:31722169..31724178-chr22:31726123..31728271,2	MCF-7	breast:
4	chr22:31685375..31688611-chr22:31722629..31725429,4	MCF-7	breast:
5	chr22:31722952..31725262-chr22:31725598..31728239,2	K562	blood:
6	chr22:31719691..31721873-chr22:31722366..31726598,4	K562	blood:

Variant related genes	Relation type
ENSG00000100100	Chromatin interaction
ENSG00000228839	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs131204	1.00[AFR][1000 genomes]
rs131208	1.00[AFR][1000 genomes]
rs131215	1.00[AFR][1000 genomes]
rs131218	0.81[AFR][1000 genomes]
rs140071	1.00[AFR][1000 genomes]
rs140073	1.00[AFR][1000 genomes]
rs140075	1.00[AFR][1000 genomes]
rs4820047	1.00[AFR][1000 genomes]
rs5753598	1.00[AFR][1000 genomes]
rs5997967	1.00[AFR][1000 genomes]
rs695257	1.00[AFR][1000 genomes]
rs695615	1.00[AFR][1000 genomes]
rs695692	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	esv3333136	chr22:31704947-31758417	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31709800-31725400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr22:31710000-31724000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:31710000-31737000	Weak transcription	Fetal Heart	heart
4	chr22:31716400-31735600	Strong transcription	Primary T cells from cord blood	blood
5	chr22:31717000-31731600	Strong transcription	Fetal Brain Female	brain
6	chr22:31717200-31735200	Strong transcription	Thymus	Thymus
7	chr22:31717200-31737600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:31717400-31730200	Strong transcription	Fetal Intestine Small	intestine
9	chr22:31717400-31733200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr22:31717400-31734400	Strong transcription	Brain Germinal Matrix	brain
11	chr22:31717600-31727400	Strong transcription	Primary B cells from cord blood	blood
12	chr22:31717600-31736800	Strong transcription	Fetal Thymus	thymus
13	chr22:31717800-31723200	Weak transcription	Aorta	Aorta
14	chr22:31717800-31732400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr22:31717800-31736000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:31718000-31731600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr22:31718000-31732800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr22:31718000-31736800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:31718000-31737800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:31718200-31724000	Strong transcription	Brain Hippocampus Middle	brain
21	chr22:31718200-31724600	Strong transcription	Fetal Muscle Leg	muscle
22	chr22:31718200-31735000	Strong transcription	Fetal Stomach	stomach
23	chr22:31718200-31735800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr22:31718200-31737600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr22:31718600-31735800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr22:31718800-31723400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr22:31718800-31732200	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr22:31718800-31733200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:31719000-31726600	Strong transcription	Fetal Intestine Large	intestine
30	chr22:31719000-31728000	Weak transcription	Osteobl	bone
31	chr22:31719000-31729400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr22:31719000-31729800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:31719000-31732800	Strong transcription	HepG2	liver
34	chr22:31719000-31733400	Strong transcription	Dnd41	blood
35	chr22:31719000-31733800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr22:31719000-31736000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr22:31719000-31738800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr22:31719200-31728400	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr22:31719400-31724200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr22:31719600-31725800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr22:31719600-31728200	Weak transcription	Hela-S3	cervix
42	chr22:31719600-31735400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:31719600-31737800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr22:31719600-31738200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr22:31719800-31725600	Weak transcription	NH-A	brain
46	chr22:31719800-31730200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr22:31719800-31735200	Strong transcription	Fetal Lung	lung
48	chr22:31719800-31738800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr22:31720000-31723200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr22:31720000-31723400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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