Variant report

Variant	rs73396208
Chromosome Location	chr22:31736359-31736360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31736345..31738425-chr22:31795224..31798140,2	K562	blood:
2	chr22:31684664..31691252-chr22:31735490..31744100,29	MCF-7	breast:
3	chr22:31735875..31738019-chr22:32032337..32033886,2	MCF-7	breast:
4	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185721	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000100100	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16989386	0.83[AFR][1000 genomes]
rs16989439	1.00[AMR][1000 genomes]
rs16989458	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16989527	1.00[AMR][1000 genomes]
rs73392247	1.00[AMR][1000 genomes]
rs73392299	1.00[AMR][1000 genomes]
rs73394316	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394338	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394364	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396219	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396221	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396224	1.00[AMR][1000 genomes]

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	chr22:31717200-31737600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:31717600-31736800	Strong transcription	Fetal Thymus	thymus
4	chr22:31718000-31736800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:31718000-31737800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:31718200-31737600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr22:31719000-31738800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:31719600-31737800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr22:31719600-31738200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr22:31719800-31738800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr22:31720600-31738000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:31720800-31737800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr22:31721000-31738000	Strong transcription	Rectal Smooth Muscle	rectum
14	chr22:31721600-31739400	Weak transcription	Psoas Muscle	Psoas
15	chr22:31724600-31738200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr22:31725400-31737800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:31728200-31738400	Strong transcription	Primary B cells from cord blood	blood
18	chr22:31728400-31737000	Strong transcription	Primary hematopoietic stem cells	blood
19	chr22:31729000-31739000	Weak transcription	Hela-S3	cervix
20	chr22:31730600-31738000	Strong transcription	Adipose Nuclei	Adipose
21	chr22:31730800-31738400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr22:31731200-31738800	Weak transcription	Right Atrium	heart
23	chr22:31731200-31739000	Weak transcription	Small Intestine	intestine
24	chr22:31731200-31739600	Weak transcription	K562	blood
25	chr22:31731600-31738800	Weak transcription	HSMMtube	muscle
26	chr22:31731800-31736600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr22:31732200-31736800	Weak transcription	Osteobl	bone
28	chr22:31732200-31737000	Weak transcription	HSMM	muscle
29	chr22:31732200-31737800	Weak transcription	Fetal Kidney	kidney
30	chr22:31732400-31738000	Genic enhancers	Fetal Intestine Large	intestine
31	chr22:31732800-31737200	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr22:31733000-31737800	Genic enhancers	Fetal Intestine Small	intestine
33	chr22:31733000-31738000	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr22:31733000-31739000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr22:31733000-31739000	Strong transcription	A549	lung
36	chr22:31733200-31738400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr22:31733200-31738400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr22:31733200-31738800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr22:31733200-31739000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr22:31733200-31739000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr22:31733200-31739000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr22:31733200-31739400	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr22:31733400-31738000	Strong transcription	HUVEC	blood vessel
44	chr22:31733400-31738200	Genic enhancers	Dnd41	blood
45	chr22:31733400-31738800	Weak transcription	NH-A	brain
46	chr22:31733400-31739000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr22:31733600-31738000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr22:31733600-31738800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr22:31733800-31737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:31733800-31739000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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