Variant report

Variant	rs12330032
Chromosome Location	chr22:28280433-28280434
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28278686..28280659-chr22:28281964..28283752,2	K562	blood:
2	chr22:28279841..28281808-chr22:28384681..28387461,2	K562	blood:
3	chr22:28278788..28281432-chr22:28313283..28315949,2	MCF-7	breast:
4	chr22:28279056..28281403-chr22:28286781..28288906,2	K562	blood:

Variant related genes	Relation type
ENSG00000180957	Chromatin interaction
ENSG00000100154	Chromatin interaction
ENSG00000235954	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10483138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11090518	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166069	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170186	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170737	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985691	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985700	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16985704	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985705	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985706	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985707	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985718	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58520548	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59807513	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8140760	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8142319	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8142920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs926468	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306449	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306450	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620742	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620744	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620745	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620747	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625350	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625357	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:28270000-28283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:28270400-28281200	Weak transcription	K562	blood
4	chr22:28273200-28284800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:28273200-28287000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:28273800-28283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr22:28274000-28284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr22:28276000-28283400	Enhancers	Colon Smooth Muscle	Colon
9	chr22:28277200-28291000	Strong transcription	GM12878-XiMat	blood
10	chr22:28277200-28308600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr22:28277400-28300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr22:28277600-28281800	Strong transcription	HSMM	muscle
13	chr22:28277600-28281800	Strong transcription	Osteobl	bone
14	chr22:28277600-28282200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr22:28277600-28284400	Weak transcription	Stomach Mucosa	stomach
16	chr22:28277800-28282000	Strong transcription	NHEK	skin
17	chr22:28277800-28282200	Weak transcription	Fetal Brain Male	brain
18	chr22:28277800-28283200	Weak transcription	Psoas Muscle	Psoas
19	chr22:28277800-28308400	Strong transcription	Dnd41	blood
20	chr22:28278200-28287000	Weak transcription	Small Intestine	intestine
21	chr22:28278400-28280600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr22:28278400-28280600	Genic enhancers	HepG2	liver
23	chr22:28278400-28280800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr22:28278400-28280800	Strong transcription	HUVEC	blood vessel
25	chr22:28278400-28281400	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr22:28278400-28298800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr22:28278400-28299000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr22:28278600-28280600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr22:28278600-28280800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr22:28278600-28299000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr22:28278600-28299600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr22:28278600-28299800	Strong transcription	Primary T cells from cord blood	blood
33	chr22:28278600-28300600	Strong transcription	Fetal Muscle Leg	muscle
34	chr22:28278800-28281400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr22:28279000-28280800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr22:28279000-28280800	Strong transcription	Fetal Thymus	thymus
37	chr22:28279000-28282200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr22:28279000-28283200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr22:28279000-28299600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr22:28279000-28300000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:28279200-28280600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr22:28279200-28280600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
43	chr22:28279200-28284800	Weak transcription	Brain Angular Gyrus	brain
44	chr22:28279200-28287000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:28279400-28280600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr22:28279400-28280600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:28279400-28280600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:28279400-28280600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr22:28279400-28280800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr22:28279400-28298400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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