Variant report

Variant	rs73881148
Chromosome Location	chr22:29206817-29206818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr22:29206649-29207476	HepG2	liver:	n/a	n/a
2	NFIC	chr22:29206719-29207478	HepG2	liver:	n/a	n/a
3	MYBL2	chr22:29206766-29207567	HepG2	liver:	n/a	n/a
4	GABPA	chr22:29206540-29207237	HL-60	blood:	n/a	n/a
5	POLR2A	chr22:29206705-29208122	HL-60	blood:	n/a	n/a
6	FOXA1	chr22:29206756-29207492	HepG2	liver:	n/a	n/a
7	EP300	chr22:29206676-29207533	HepG2	liver:	n/a	n/a
8	POLR2A	chr22:29206564-29207536	HL-60	blood:	n/a	n/a
9	FOXA2	chr22:29206779-29207398	HepG2	liver:	n/a	n/a
10	SP1	chr22:29206700-29207509	HepG2	liver:	n/a	n/a
11	SPI1	chr22:29206794-29207218	HL-60	blood:	n/a	n/a
12	REST	chr22:29206595-29207271	HL-60	blood:	n/a	n/a
13	HDAC2	chr22:29206785-29207599	HepG2	liver:	n/a	chr22:29207149-29207163
14	IKZF1	chr22:29206778-29207452	GM12878	blood:	n/a	n/a
15	CEBPB	chr22:29206789-29207281	HepG2	liver:	n/a	chr22:29206934-29206945
16	HEY1	chr22:29206749-29207421	HepG2	liver:	n/a	n/a
17	MYBL2	chr22:29206627-29207540	HepG2	liver:	n/a	n/a
18	POLR2A	chr22:29206646-29207091	HUVEC	blood vessel:	n/a	n/a
19	FOXA1	chr22:29206756-29207507	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29168673..29170416-chr22:29204780..29206818,2	MCF-7	breast:
2	chr22:29195974..29199914-chr22:29206456..29209636,5	K562	blood:
3	chr22:29205328..29207798-chr6:30697845..30700458,2	MCF-7	breast:
4	chr17:57918590..57921069-chr22:29206794..29208506,2	MCF-7	breast:
5	chr22:29133437..29141650-chr22:29203240..29216422,34	MCF-7	breast:
6	chr22:29126583..29142031-chr22:29203252..29220632,67	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272858	TF binding region
ENSG00000100209	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000159873	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17885250	1.00[AFR][1000 genomes]
rs59604620	1.00[AFR][1000 genomes]
rs717869	1.00[AFR][1000 genomes]
rs73881144	0.91[AFR][1000 genomes]
rs73881151	1.00[AFR][1000 genomes]
rs73881154	1.00[AFR][1000 genomes]
rs73881155	1.00[AFR][1000 genomes]
rs73881164	1.00[AFR][1000 genomes]
rs763074	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	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29197200-29208200	Weak transcription	Esophagus	oesophagus
2	chr22:29197200-29209800	Weak transcription	Left Ventricle	heart
3	chr22:29197200-29214200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:29197200-29231600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:29197400-29214400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr22:29197400-29220400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:29197600-29209800	Weak transcription	Ovary	ovary
8	chr22:29197800-29214200	Weak transcription	Right Ventricle	heart
9	chr22:29198000-29225200	Weak transcription	HSMM	muscle
10	chr22:29198200-29218600	Weak transcription	Brain Angular Gyrus	brain
11	chr22:29198400-29208200	Weak transcription	Fetal Lung	lung
12	chr22:29198400-29208400	Weak transcription	Lung	lung
13	chr22:29198400-29209800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr22:29198400-29214000	Weak transcription	Colonic Mucosa	Colon
15	chr22:29198400-29214400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29198400-29215600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:29198400-29225200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:29198600-29207200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:29198600-29207200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr22:29198600-29210600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr22:29198600-29211200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr22:29198600-29212600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:29198600-29214200	Weak transcription	Colon Smooth Muscle	Colon
24	chr22:29198600-29214400	Weak transcription	Aorta	Aorta
25	chr22:29198600-29214600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:29198600-29219400	Weak transcription	NHLF	lung
27	chr22:29198600-29225200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr22:29198600-29225200	Weak transcription	Osteobl	bone
29	chr22:29198600-29231400	Weak transcription	HSMMtube	muscle
30	chr22:29198800-29207200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr22:29198800-29207800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr22:29198800-29214200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr22:29198800-29214400	Weak transcription	Fetal Heart	heart
34	chr22:29198800-29230800	Weak transcription	NHEK	skin
35	chr22:29199000-29208400	Weak transcription	NHDF-Ad	bronchial
36	chr22:29199400-29207400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr22:29200600-29231400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:29200800-29208200	Weak transcription	Fetal Stomach	stomach
39	chr22:29203800-29208200	Enhancers	Liver	Liver
40	chr22:29204000-29207400	Enhancers	Small Intestine	intestine
41	chr22:29204800-29207000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr22:29204800-29214600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr22:29205000-29214200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr22:29205200-29207000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr22:29205200-29214400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr22:29205200-29218800	Weak transcription	Brain Hippocampus Middle	brain
47	chr22:29205400-29207000	Weak transcription	Adipose Nuclei	Adipose
48	chr22:29205400-29207200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr22:29205400-29207200	Weak transcription	Fetal Muscle Leg	muscle
50	chr22:29205400-29209000	Weak transcription	A549	lung

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