Variant report

Variant	rs131208
Chromosome Location	chr22:31732243-31732244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31478095..31480171-chr22:31731632..31733527,2	K562	blood:

Variant related genes	Relation type
ENSG00000273387	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs131204	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs131206	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[YRI][hapmap];1.00[AFR][1000 genomes]
rs4820047	1.00[YRI][hapmap];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]
rs695743	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs695757	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31710000-31737000	Weak transcription	Fetal Heart	heart
2	chr22:31716400-31735600	Strong transcription	Primary T cells from cord blood	blood
3	chr22:31717200-31735200	Strong transcription	Thymus	Thymus
4	chr22:31717200-31737600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:31717400-31733200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr22:31717400-31734400	Strong transcription	Brain Germinal Matrix	brain
7	chr22:31717600-31736800	Strong transcription	Fetal Thymus	thymus
8	chr22:31717800-31732400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr22:31717800-31736000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:31718000-31732800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr22:31718000-31736800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:31718000-31737800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:31718200-31735000	Strong transcription	Fetal Stomach	stomach
14	chr22:31718200-31735800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr22:31718200-31737600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr22:31718600-31735800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr22:31718800-31733200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:31719000-31732800	Strong transcription	HepG2	liver
19	chr22:31719000-31733400	Strong transcription	Dnd41	blood
20	chr22:31719000-31733800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:31719000-31736000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr22:31719000-31738800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr22:31719600-31735400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:31719600-31737800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr22:31719600-31738200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr22:31719800-31735200	Strong transcription	Fetal Lung	lung
27	chr22:31719800-31738800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr22:31720000-31732400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr22:31720200-31732400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr22:31720600-31738000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr22:31720800-31735400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr22:31720800-31735600	Strong transcription	GM12878-XiMat	blood
33	chr22:31720800-31737800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr22:31721000-31738000	Strong transcription	Rectal Smooth Muscle	rectum
35	chr22:31721200-31733800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
36	chr22:31721200-31734600	Strong transcription	Left Ventricle	heart
37	chr22:31721200-31735200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr22:31721600-31739400	Weak transcription	Psoas Muscle	Psoas
39	chr22:31722200-31732400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr22:31724600-31738200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr22:31725400-31737800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:31725800-31736000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr22:31726000-31732600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr22:31727000-31734600	Strong transcription	Colon Smooth Muscle	Colon
45	chr22:31727200-31732400	Strong transcription	Fetal Intestine Large	intestine
46	chr22:31727200-31735400	Strong transcription	Liver	Liver
47	chr22:31727200-31735600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr22:31727800-31733800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:31728200-31738400	Strong transcription	Primary B cells from cord blood	blood
50	chr22:31728400-31737000	Strong transcription	Primary hematopoietic stem cells	blood

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