Variant report

Variant	rs5997644
Chromosome Location	chr22:30828797-30828798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr22:30828514-30828911	HepG2	liver:	n/a	chr22:30828700-30828708
2	MAZ	chr22:30828703-30828841	HepG2	liver:	n/a	n/a
3	SPI1	chr22:30828697-30829076	HL-60	blood:	n/a	chr22:30828782-30828789 chr22:30828845-30828858
4	HNF4G	chr22:30828513-30828890	HepG2	liver:	n/a	chr22:30828700-30828708
5	SPI1	chr22:30828756-30828895	K562	blood:	n/a	chr22:30828782-30828789 chr22:30828845-30828858
6	CEBPB	chr22:30828365-30828803	HepG2	liver:	n/a	n/a
7	HNF4A	chr22:30828580-30828814	HepG2	liver:	n/a	chr22:30828700-30828708
8	RCOR1	chr22:30828723-30828828	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30827450..30829773-chr22:30832531..30834279,2	K562	blood:
2	chr22:30827529..30829177-chr22:30839737..30842354,2	K562	blood:
3	chr22:30828166..30830631-chr22:30830647..30834059,3	MCF-7	breast:
4	chr22:30790931..30793617-chr22:30827644..30831113,3	MCF-7	breast:
5	chr22:30681252..30684229-chr22:30827190..30829126,2	K562	blood:

Variant related genes	Relation type
ENSG00000273428	TF binding region
ENSG00000203606	TF binding region
ENSG00000203606	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000100003	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10427765	1.00[AMR][1000 genomes]
rs12158119	1.00[AMR][1000 genomes]
rs12159979	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16988763	1.00[AMR][1000 genomes]
rs34765878	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997635	1.00[AMR][1000 genomes]
rs5997649	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394240	1.00[AMR][1000 genomes]
rs73881452	1.00[AMR][1000 genomes]
rs73881454	1.00[AMR][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30822400-30834400	Weak transcription	Small Intestine	intestine
2	chr22:30822600-30831600	Weak transcription	Right Atrium	heart
3	chr22:30822600-30832000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr22:30822800-30831600	Weak transcription	Right Ventricle	heart
5	chr22:30822800-30832000	Weak transcription	Left Ventricle	heart
6	chr22:30823000-30831000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr22:30823000-30831000	Weak transcription	NH-A	brain
8	chr22:30823000-30831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:30823000-30831200	Weak transcription	Fetal Thymus	thymus
10	chr22:30823000-30831600	Weak transcription	Colonic Mucosa	Colon
11	chr22:30823200-30831000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr22:30823200-30831000	Weak transcription	HUVEC	blood vessel
13	chr22:30823200-30831200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr22:30823200-30831600	Weak transcription	Thymus	Thymus
15	chr22:30823200-30831600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr22:30823200-30833600	Weak transcription	Stomach Mucosa	stomach
17	chr22:30823400-30829600	Weak transcription	HMEC	breast
18	chr22:30823400-30830200	Weak transcription	Lung	lung
19	chr22:30823400-30830800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr22:30823600-30830800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr22:30823800-30830600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr22:30824000-30830600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr22:30824400-30831400	Weak transcription	Placenta	Placenta
24	chr22:30824400-30839000	Weak transcription	Hela-S3	cervix
25	chr22:30824600-30829400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr22:30824600-30829600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr22:30824600-30831600	Weak transcription	A549	lung
28	chr22:30824800-30831200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:30824800-30831200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr22:30824800-30831400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr22:30824800-30834400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr22:30825000-30829600	Weak transcription	NHEK	skin
33	chr22:30825000-30830800	Weak transcription	K562	blood
34	chr22:30825000-30831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:30825000-30831600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr22:30825000-30831600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr22:30825200-30829600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr22:30825200-30831000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:30825200-30831000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:30825200-30831000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr22:30825200-30831400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr22:30825200-30831400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr22:30825200-30831400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:30825200-30831600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr22:30825400-30830800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:30825400-30830800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr22:30825400-30831200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr22:30825600-30830000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr22:30825600-30830800	Weak transcription	GM12878-XiMat	blood
50	chr22:30825600-30831000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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