Variant report

Variant	rs41278853
Chromosome Location	chr22:30416527-30416528
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	POLR2A	chr22:30416109-30416987	K562	blood:	n/a	n/a
2	POLR2A	chr22:30416171-30416601	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30409447..30412347-chr22:30414511..30417277,3	MCF-7	breast:
2	chr22:30410210..30413096-chr22:30414257..30416563,2	K562	blood:
3	chr22:30408762..30413096-chr22:30414257..30417266,4	K562	blood:

Variant related genes	Relation type
MTMR3	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs11552852	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1544429	0.91[EUR][1000 genomes]
rs1544430	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1544431	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1544433	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16988120	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16988143	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16988148	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16988149	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16988244	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16988291	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16988303	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16988304	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16988333	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17648208	0.98[EUR][1000 genomes]
rs1807726	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2105871	0.82[EUR][1000 genomes]
rs2349228	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2412980	0.89[EUR][1000 genomes]
rs2412981	0.89[EUR][1000 genomes]
rs36579	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36588	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36589	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36592	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36593	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36597	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36599	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36602	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36603	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36608	0.86[EUR][1000 genomes]
rs39713	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41281623	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41281633	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4482600	0.89[EUR][1000 genomes]
rs4482601	0.86[EUR][1000 genomes]
rs45629133	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4820823	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4823078	0.89[EUR][1000 genomes]
rs55645000	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56392746	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56406718	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57348516	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5752974	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5752977	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5752979	0.91[EUR][1000 genomes]
rs5753038	0.82[EUR][1000 genomes]
rs5753039	0.89[EUR][1000 genomes]
rs5753042	0.89[EUR][1000 genomes]
rs5753043	0.85[EUR][1000 genomes]
rs5763560	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5763568	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5763582	0.82[EUR][1000 genomes]
rs5763595	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763855	0.89[EUR][1000 genomes]
rs5763856	0.89[EUR][1000 genomes]
rs5763857	0.89[EUR][1000 genomes]
rs5763858	0.89[EUR][1000 genomes]
rs5763870	0.89[EUR][1000 genomes]
rs5763873	0.89[EUR][1000 genomes]
rs5763878	0.89[EUR][1000 genomes]
rs58162368	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5997539	0.84[EUR][1000 genomes]
rs6006276	0.84[EUR][1000 genomes]
rs6006383	0.93[EUR][1000 genomes]
rs60759987	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6518681	0.89[EUR][1000 genomes]
rs6519802	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6519805	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs713916	0.89[EUR][1000 genomes]
rs7284365	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7284951	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7285585	0.89[EUR][1000 genomes]
rs7286205	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7286441	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7287233	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7290175	0.89[EUR][1000 genomes]
rs737901	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs737938	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883344	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883349	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73883354	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883355	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883358	0.84[AMR][1000 genomes]
rs73883359	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73883360	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73883363	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73883367	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73883370	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73883374	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73883375	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73883377	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73883378	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8141471	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs962322	0.89[EUR][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	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr22:30390200-30434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:30391400-30433000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr22:30391600-30417800	Weak transcription	Right Atrium	heart
6	chr22:30392600-30425000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr22:30393800-30424800	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr22:30394600-30424600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr22:30394800-30425200	Strong transcription	Fetal Intestine Large	intestine
10	chr22:30394800-30426200	Strong transcription	Placenta	Placenta
11	chr22:30396800-30426200	Strong transcription	Primary B cells from cord blood	blood
12	chr22:30397600-30419800	Strong transcription	Dnd41	blood
13	chr22:30397800-30423800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr22:30397800-30425400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr22:30398000-30424400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr22:30398000-30426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:30398400-30425000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr22:30398600-30425200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr22:30399800-30422400	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr22:30401200-30420000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr22:30401200-30423200	Strong transcription	Adipose Nuclei	Adipose
22	chr22:30401600-30425200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:30402000-30422600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr22:30402000-30422600	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr22:30402200-30425200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr22:30402400-30420800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr22:30402400-30424600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr22:30402600-30423600	Strong transcription	Liver	Liver
29	chr22:30402600-30426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:30402800-30424200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr22:30402800-30425800	Strong transcription	Fetal Muscle Leg	muscle
32	chr22:30403000-30421000	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr22:30403000-30424400	Strong transcription	Fetal Brain Female	brain
34	chr22:30403000-30425200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr22:30404000-30423400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr22:30404400-30420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr22:30404400-30426400	Strong transcription	Primary T cells from cord blood	blood
38	chr22:30404800-30426000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:30405000-30424200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr22:30405200-30424600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:30405200-30424800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr22:30405800-30424800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr22:30406000-30426600	Strong transcription	Thymus	Thymus
44	chr22:30406200-30425200	Strong transcription	Fetal Thymus	thymus
45	chr22:30407800-30425200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr22:30408000-30425800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr22:30408200-30418400	Strong transcription	Gastric	stomach
48	chr22:30408200-30420200	Strong transcription	Esophagus	oesophagus
49	chr22:30408200-30422800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr22:30408200-30422800	Strong transcription	Fetal Intestine Small	intestine

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