Variant report

Variant	rs73392888
Chromosome Location	chr22:30192692-30192693
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30186308..30188642-chr22:30191729..30194768,3	K562	blood:
2	chr22:30185624..30189974-chr22:30192313..30194980,5	MCF-7	breast:
3	chr22:30189037..30193346-chr22:30193366..30197139,6	MCF-7	breast:
4	chr22:30191459..30193505-chr22:30210545..30213247,2	MCF-7	breast:
5	chr22:30191639..30194644-chr22:30194985..30199113,4	K562	blood:
6	chr22:30191545..30194644-chr22:30195667..30197802,3	K562	blood:
7	chr22:30167944..30169824-chr22:30191784..30194571,2	MCF-7	breast:
8	chr22:30189139..30191071-chr22:30192199..30195286,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11549795	1.00[EUR][1000 genomes]
rs1544429	0.82[EUR][1000 genomes]
rs1544431	0.80[EUR][1000 genomes]
rs1544433	0.80[EUR][1000 genomes]
rs16988025	0.87[EUR][1000 genomes]
rs16988120	0.80[EUR][1000 genomes]
rs16988143	0.80[EUR][1000 genomes]
rs16988149	0.80[EUR][1000 genomes]
rs2105871	0.87[EUR][1000 genomes]
rs2349228	0.81[EUR][1000 genomes]
rs249394	0.98[EUR][1000 genomes]
rs249403	1.00[EUR][1000 genomes]
rs28265	1.00[EUR][1000 genomes]
rs36571	1.00[EUR][1000 genomes]
rs36575	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36577	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36579	0.80[EUR][1000 genomes]
rs36588	0.80[EUR][1000 genomes]
rs36589	0.80[EUR][1000 genomes]
rs36592	0.80[EUR][1000 genomes]
rs36593	0.80[EUR][1000 genomes]
rs36599	0.80[EUR][1000 genomes]
rs36602	0.80[EUR][1000 genomes]
rs36603	0.80[EUR][1000 genomes]
rs4820823	0.81[EUR][1000 genomes]
rs55645000	0.80[EUR][1000 genomes]
rs56332559	1.00[EUR][1000 genomes]
rs57348516	0.80[EUR][1000 genomes]
rs5752974	0.84[EUR][1000 genomes]
rs5752977	0.84[EUR][1000 genomes]
rs5752979	0.82[EUR][1000 genomes]
rs5763560	0.84[EUR][1000 genomes]
rs5763568	0.84[EUR][1000 genomes]
rs5763582	0.82[EUR][1000 genomes]
rs5763595	0.80[EUR][1000 genomes]
rs57779751	0.87[EUR][1000 genomes]
rs58763525	0.87[EUR][1000 genomes]
rs5997539	0.84[EUR][1000 genomes]
rs6006276	0.84[EUR][1000 genomes]
rs7284951	0.80[EUR][1000 genomes]
rs7286441	0.80[EUR][1000 genomes]
rs7287233	0.80[EUR][1000 genomes]
rs7289803	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7292013	0.87[EUR][1000 genomes]
rs73392822	0.91[AFR][1000 genomes]
rs737938	0.80[EUR][1000 genomes]
rs73883310	0.87[EUR][1000 genomes]
rs73883312	0.87[EUR][1000 genomes]
rs73883313	0.87[EUR][1000 genomes]
rs73883320	1.00[EUR][1000 genomes]
rs73883344	0.80[EUR][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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30166800-30194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:30175400-30194000	Weak transcription	Hela-S3	cervix
3	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:30178400-30193000	Weak transcription	A549	lung
5	chr22:30181200-30196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:30181200-30196200	Weak transcription	Fetal Heart	heart
7	chr22:30182000-30194600	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:30182200-30194000	Strong transcription	Fetal Muscle Leg	muscle
9	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
10	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
11	chr22:30182400-30192800	Strong transcription	Brain Hippocampus Middle	brain
12	chr22:30182600-30194800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr22:30182800-30192800	Strong transcription	Fetal Thymus	thymus
14	chr22:30182800-30194400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:30182800-30194600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr22:30182800-30194600	Strong transcription	Stomach Smooth Muscle	stomach
17	chr22:30182800-30204600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:30182800-30204800	Strong transcription	Fetal Brain Female	brain
19	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
20	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
21	chr22:30183000-30192800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr22:30183000-30193000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr22:30183000-30193000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr22:30183000-30193400	Strong transcription	Osteobl	bone
25	chr22:30183000-30194000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr22:30183000-30194200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:30183000-30194200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:30183000-30194200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:30183000-30194400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr22:30183000-30194400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr22:30183000-30194400	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr22:30183200-30193000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr22:30183200-30194600	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr22:30183200-30197000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr22:30183400-30194200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr22:30183400-30194200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:30183400-30194200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr22:30183400-30204800	Strong transcription	Brain Germinal Matrix	brain
41	chr22:30183400-30224000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr22:30183600-30193400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr22:30183600-30193400	Strong transcription	Right Ventricle	heart
45	chr22:30183600-30194000	Strong transcription	Left Ventricle	heart
46	chr22:30183600-30194400	Strong transcription	Dnd41	blood
47	chr22:30183600-30194600	Strong transcription	Brain Cingulate Gyrus	brain
48	chr22:30183800-30192800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr22:30183800-30194200	Strong transcription	Brain Anterior Caudate	brain
50	chr22:30183800-30194400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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