Variant report

Variant	rs57349783
Chromosome Location	chr22:30299533-30299534
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr22:30299526-30299687	HepG2	liver:	n/a	n/a
2	CEBPB	chr22:30299452-30299719	MCF-7	breast:	n/a	n/a
3	CEBPB	chr22:30299489-30299682	IMR90	lung:	n/a	n/a
4	CEBPB	chr22:30299474-30299639	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30294545..30297116-chr22:30298361..30301240,2	K562	blood:
2	chr22:30298495..30301081-chr22:30311578..30313421,2	MCF-7	breast:
3	chr22:30298737..30301199-chr22:30301217..30303994,2	K562	blood:
4	chr22:30298737..30301803-chr22:30302494..30306350,3	K562	blood:

No data

Variant related genes	Relation type
RNU6-331P	TF binding region
ENSG00000207455	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs2051858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2051859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2107672	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2107673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2158535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232904	1.00[AMR][1000 genomes]
rs56822704	0.84[AFR][1000 genomes]
rs56836109	1.00[AMR][1000 genomes]
rs57561197	1.00[AMR][1000 genomes]
rs57631440	1.00[AMR][1000 genomes]
rs57889745	1.00[AMR][1000 genomes]
rs58198399	1.00[AMR][1000 genomes]
rs58564057	0.86[AFR][1000 genomes]
rs58906954	1.00[AMR][1000 genomes]
rs59632146	1.00[AMR][1000 genomes]
rs59732153	1.00[AMR][1000 genomes]
rs6006286	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60093195	0.86[AFR][1000 genomes]
rs60098050	0.93[AFR][1000 genomes]
rs60416116	1.00[AMR][1000 genomes]
rs60573683	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60613378	1.00[AMR][1000 genomes]
rs60751132	0.83[AFR][1000 genomes]
rs61310283	1.00[AMR][1000 genomes]
rs7291683	1.00[AFR][1000 genomes]
rs73390962	1.00[AMR][1000 genomes]
rs73390967	1.00[AMR][1000 genomes]
rs73390968	1.00[AMR][1000 genomes]
rs73392820	1.00[AMR][1000 genomes]
rs73392847	1.00[AMR][1000 genomes]
rs73392870	1.00[AMR][1000 genomes]
rs73392874	1.00[AMR][1000 genomes]
rs73392878	1.00[AMR][1000 genomes]
rs73392892	1.00[AMR][1000 genomes]
rs73392894	1.00[AMR][1000 genomes]
rs73394839	1.00[AMR][1000 genomes]
rs73394864	1.00[AMR][1000 genomes]
rs73394865	1.00[AMR][1000 genomes]
rs73394872	1.00[AMR][1000 genomes]
rs73394875	1.00[AMR][1000 genomes]
rs73394881	0.89[AFR][1000 genomes]
rs73394884	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394885	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394887	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394890	1.00[AMR][1000 genomes]
rs73394892	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394897	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396803	1.00[AMR][1000 genomes]
rs73396810	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396811	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396831	0.98[AFR][1000 genomes]
rs73396841	1.00[AFR][1000 genomes]
rs73396843	0.93[AFR][1000 genomes]
rs73396848	0.84[AFR][1000 genomes]
rs73396856	0.93[AFR][1000 genomes]
rs73396863	1.00[AFR][1000 genomes]
rs73396872	0.84[AFR][1000 genomes]
rs73396885	0.93[AFR][1000 genomes]
rs73396896	0.93[AFR][1000 genomes]
rs73396902	0.89[AFR][1000 genomes]
rs73398629	0.86[AFR][1000 genomes]
rs73398630	0.84[AFR][1000 genomes]
rs73398647	0.80[AFR][1000 genomes]
rs73398654	0.89[AFR][1000 genomes]
rs73398659	0.89[AFR][1000 genomes]
rs73398662	0.89[AFR][1000 genomes]
rs73398664	0.89[AFR][1000 genomes]
rs73398683	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1830801	chr22:30292682-30299797	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1833074	chr22:30294744-30300521	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
2	chr22:30280800-30303600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr22:30281000-30303000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr22:30281000-30303200	Weak transcription	Fetal Muscle Leg	muscle
5	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr22:30281600-30303400	Weak transcription	Fetal Intestine Small	intestine
7	chr22:30281800-30300200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:30282200-30303000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:30282200-30303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr22:30282600-30300000	Weak transcription	Small Intestine	intestine
12	chr22:30282600-30303400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:30283800-30300000	Weak transcription	Stomach Mucosa	stomach
14	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
15	chr22:30284000-30299800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr22:30284000-30303600	Weak transcription	Brain Angular Gyrus	brain
17	chr22:30284400-30303800	Weak transcription	Pancreas	Pancrea
18	chr22:30287000-30301000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr22:30290800-30300000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr22:30291000-30299800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr22:30291000-30303600	Weak transcription	Colon Smooth Muscle	Colon
24	chr22:30294800-30300000	Weak transcription	Right Atrium	heart
25	chr22:30294800-30300000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr22:30294800-30301000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr22:30294800-30302000	Weak transcription	Right Ventricle	heart
28	chr22:30294800-30303400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr22:30294800-30303800	Weak transcription	Fetal Stomach	stomach
30	chr22:30295200-30300000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr22:30295400-30300000	Weak transcription	Gastric	stomach
32	chr22:30295400-30303400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr22:30295800-30300000	Weak transcription	Psoas Muscle	Psoas
34	chr22:30295800-30303200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr22:30296000-30303800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr22:30296200-30300200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr22:30296600-30305600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr22:30297000-30303800	Weak transcription	Fetal Intestine Large	intestine
39	chr22:30297800-30302800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr22:30297800-30303000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr22:30297800-30303000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:30297800-30303400	Weak transcription	Adipose Nuclei	Adipose
43	chr22:30298000-30300200	Weak transcription	K562	blood
44	chr22:30298000-30302000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:30298000-30302000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr22:30298000-30303400	Weak transcription	Brain Substantia Nigra	brain
47	chr22:30298000-30303400	Weak transcription	Fetal Lung	lung
48	chr22:30298000-30303600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr22:30298000-30303600	Weak transcription	NHLF	lung
50	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood

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