Variant report

Variant	rs2285645
Chromosome Location	chr22:30422708-30422709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30422072..30424953-chr22:30431511..30433741,2	MCF-7	breast:
2	chr22:30421468..30423711-chr22:30425219..30428106,3	K562	blood:
3	chr22:30421588..30423711-chr22:30425219..30427810,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10483157	0.81[EUR][1000 genomes]
rs73400621	0.92[AFR][1000 genomes]
rs9620939	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9625869	1.00[CEU][hapmap]
rs9625903	0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs9625907	1.00[CEU][hapmap]

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:126 , 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	chr22:30392600-30425000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr22:30393800-30424800	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr22:30394600-30424600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr22:30394800-30425200	Strong transcription	Fetal Intestine Large	intestine
9	chr22:30394800-30426200	Strong transcription	Placenta	Placenta
10	chr22:30396800-30426200	Strong transcription	Primary B cells from cord blood	blood
11	chr22:30397800-30423800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr22:30397800-30425400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr22:30398000-30424400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr22:30398000-30426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:30398400-30425000	Strong transcription	Primary hematopoietic stem cells	blood
16	chr22:30398600-30425200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr22:30401200-30423200	Strong transcription	Adipose Nuclei	Adipose
18	chr22:30401600-30425200	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr22:30402200-30425200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr22:30402400-30424600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr22:30402600-30423600	Strong transcription	Liver	Liver
22	chr22:30402600-30426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:30402800-30424200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:30402800-30425800	Strong transcription	Fetal Muscle Leg	muscle
25	chr22:30403000-30424400	Strong transcription	Fetal Brain Female	brain
26	chr22:30403000-30425200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr22:30404000-30423400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:30404400-30426400	Strong transcription	Primary T cells from cord blood	blood
29	chr22:30404800-30426000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:30405000-30424200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr22:30405200-30424600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:30405200-30424800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:30405800-30424800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr22:30406000-30426600	Strong transcription	Thymus	Thymus
35	chr22:30406200-30425200	Strong transcription	Fetal Thymus	thymus
36	chr22:30407800-30425200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr22:30408000-30425800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr22:30408200-30422800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr22:30408200-30422800	Strong transcription	Fetal Intestine Small	intestine
40	chr22:30408200-30425000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:30408400-30423400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr22:30408400-30423600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr22:30408400-30424200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr22:30408400-30425800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr22:30408600-30424600	Strong transcription	Rectal Smooth Muscle	rectum
46	chr22:30408800-30423400	Strong transcription	Colon Smooth Muscle	Colon
47	chr22:30408800-30423800	Strong transcription	Ovary	ovary
48	chr22:30409000-30422800	Strong transcription	Spleen	Spleen
49	chr22:30409000-30424200	Strong transcription	Pancreas	Pancrea
50	chr22:30409000-30432800	Strong transcription	Fetal Stomach	stomach

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