Variant report

Variant	rs5997515
Chromosome Location	chr22:30140278-30140279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30139115..30141689-chr22:30143703..30146029,2	K562	blood:
2	chr22:30120187..30123071-chr22:30140004..30142315,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1001318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12158466	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12159277	1.00[CEU][hapmap]
rs12159536	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12163073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627866	1.00[CEU][hapmap]
rs12628545	1.00[CEU][hapmap]
rs13057811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs14115	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16988049	1.00[CEU][hapmap]
rs2018808	0.82[EUR][1000 genomes]
rs2232903	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2240365	1.00[CEU][hapmap]
rs28730892	0.82[EUR][1000 genomes]
rs5997507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs5997508	0.89[ASN][1000 genomes]
rs5997509	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs5997518	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997519	0.82[EUR][1000 genomes]
rs5997520	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs5997524	0.82[EUR][1000 genomes]
rs6006234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6006235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6006238	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006239	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006241	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006247	0.82[EUR][1000 genomes]
rs6006249	0.82[EUR][1000 genomes]
rs6006250	0.82[EUR][1000 genomes]
rs6006262	0.82[EUR][1000 genomes]
rs60102307	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71331211	0.89[ASN][1000 genomes]
rs7285660	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7285800	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7290420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73394838	0.82[EUR][1000 genomes]
rs740116	1.00[CEU][hapmap]
rs8138165	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30123200-30142800	Weak transcription	Brain Substantia Nigra	brain
2	chr22:30123600-30146800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:30123600-30147000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr22:30125400-30146200	Weak transcription	NHLF	lung
5	chr22:30126000-30144600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:30126600-30145200	Strong transcription	Primary T cells from cord blood	blood
7	chr22:30127600-30140600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr22:30129400-30144600	Strong transcription	Liver	Liver
9	chr22:30129800-30141000	Strong transcription	Fetal Stomach	stomach
10	chr22:30130000-30141000	Weak transcription	Colon Smooth Muscle	Colon
11	chr22:30130200-30150200	Weak transcription	A549	lung
12	chr22:30130400-30150600	Strong transcription	Fetal Intestine Small	intestine
13	chr22:30130600-30149800	Weak transcription	Psoas Muscle	Psoas
14	chr22:30131000-30145800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr22:30131400-30148600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:30131600-30142200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr22:30131600-30144800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr22:30131600-30145600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr22:30131600-30162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:30131800-30147200	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr22:30133200-30144600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr22:30133400-30140800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:30133400-30144600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr22:30134000-30144600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr22:30134200-30140800	Strong transcription	Adipose Nuclei	Adipose
26	chr22:30134200-30142600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr22:30134200-30144600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr22:30134400-30140600	Weak transcription	HSMMtube	muscle
29	chr22:30134400-30144800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:30134400-30158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:30134600-30145200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr22:30134800-30142600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr22:30135400-30141200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr22:30135400-30142200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:30135600-30141600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr22:30136000-30141400	Weak transcription	Fetal Lung	lung
37	chr22:30136000-30154800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:30136600-30142000	Strong transcription	Primary B cells from cord blood	blood
39	chr22:30136600-30146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr22:30136600-30146600	Weak transcription	Fetal Heart	heart
41	chr22:30136600-30146800	Weak transcription	Small Intestine	intestine
42	chr22:30136800-30145600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr22:30136800-30146600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr22:30137200-30142600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr22:30137200-30142800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr22:30137200-30143200	Weak transcription	Colonic Mucosa	Colon
47	chr22:30137200-30143800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:30137600-30140600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:30137600-30140600	Weak transcription	HepG2	liver
50	chr22:30137600-30140800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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