Variant report

Variant	rs542993534
Chromosome Location	chr22:22053833-22053834
allele	C/T
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22051706..22055325-chr22:22218845..22220883,3	K562	blood:
2	chr22:22052949..22055555-chr22:22138191..22140675,2	K562	blood:
3	chr22:22020173..22022757-chr22:22050947..22054337,3	MCF-7	breast:
4	chr22:22027702..22029917-chr22:22051466..22054058,2	MCF-7	breast:
5	chr22:22053644..22055613-chr22:22055957..22058510,3	MCF-7	breast:
6	chr22:22050871..22057964-chr22:22289460..22296191,13	K562	blood:
7	chr22:22053698..22055287-chr22:22332085..22334698,2	K562	blood:
8	chr22:22026398..22029165-chr22:22052944..22055658,3	MCF-7	breast:
9	chr22:22051539..22057555-chr22:22289579..22294556,10	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAPK1-3	chr22:22051836-22054023	NONHSAT083713

No data

Variant related genes	Relation type
ENSG00000100023	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000224086	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
4	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
5	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
8	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
9	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
11	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
12	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
13	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
14	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv191511	chr22:22052566-22058785	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22022000-22055600	Weak transcription	Fetal Brain Male	brain
2	chr22:22026600-22054200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr22:22027000-22055800	Weak transcription	Fetal Kidney	kidney
4	chr22:22031400-22058400	Strong transcription	Fetal Intestine Small	intestine
5	chr22:22031600-22058400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr22:22032200-22056600	Strong transcription	Primary T cells from cord blood	blood
7	chr22:22032200-22065200	Strong transcription	Fetal Thymus	thymus
8	chr22:22033400-22065800	Strong transcription	Thymus	Thymus
9	chr22:22034400-22054600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr22:22034400-22055800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr22:22034600-22058600	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr22:22034600-22059800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:22034600-22065400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:22035200-22054600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr22:22035200-22057800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr22:22035200-22060000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:22036400-22054400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:22039400-22056600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:22044400-22067400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr22:22045800-22060000	Strong transcription	Fetal Brain Female	brain
21	chr22:22045800-22066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:22047200-22057600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:22047400-22054200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr22:22047400-22057800	Strong transcription	Brain Cingulate Gyrus	brain
25	chr22:22047400-22060000	Strong transcription	Dnd41	blood
26	chr22:22047400-22060400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr22:22047600-22055200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr22:22047600-22056600	Strong transcription	Brain Substantia Nigra	brain
29	chr22:22047600-22058200	Strong transcription	Brain Hippocampus Middle	brain
30	chr22:22047600-22059000	Strong transcription	Brain Anterior Caudate	brain
31	chr22:22047600-22059200	Strong transcription	Brain Germinal Matrix	brain
32	chr22:22047800-22054200	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr22:22047800-22058200	Strong transcription	Ovary	ovary
34	chr22:22048200-22054000	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr22:22048800-22056200	Weak transcription	HMEC	breast
36	chr22:22049200-22054800	Enhancers	Fetal Heart	heart
37	chr22:22049200-22055200	Weak transcription	Stomach Mucosa	stomach
38	chr22:22049200-22055200	Weak transcription	A549	lung
39	chr22:22049200-22055400	Weak transcription	HUVEC	blood vessel
40	chr22:22049800-22056800	Strong transcription	Primary B cells from cord blood	blood
41	chr22:22050000-22054200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr22:22050200-22056200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr22:22050800-22064000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr22:22051400-22055200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:22051400-22056000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr22:22051400-22067400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr22:22051600-22054600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr22:22051600-22055000	Weak transcription	HepG2	liver
49	chr22:22051800-22054000	Genic enhancers	Fetal Muscle Leg	muscle
50	chr22:22051800-22054000	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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