Variant report

Variant	rs59698661
Chromosome Location	chr22:30179723-30179724
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	chr22:30177029..30179936-chr22:30193624..30196507,4	MCF-7	breast:
2	chr22:30165843..30167692-chr22:30176073..30180493,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56783715	0.91[ASN][1000 genomes]
rs57014206	0.91[ASN][1000 genomes]
rs58113244	0.91[ASN][1000 genomes]
rs58808486	1.00[ASN][1000 genomes]
rs59172206	0.91[ASN][1000 genomes]
rs59237579	0.91[ASN][1000 genomes]
rs59422664	0.91[ASN][1000 genomes]
rs59902813	0.91[ASN][1000 genomes]
rs60020246	0.91[ASN][1000 genomes]
rs6006260	1.00[ASN][1000 genomes]
rs60670183	1.00[ASN][1000 genomes]
rs60751623	0.82[ASN][1000 genomes]
rs60965931	0.91[ASN][1000 genomes]
rs61399074	1.00[ASN][1000 genomes]
rs61432554	0.91[ASN][1000 genomes]
rs7285384	1.00[ASN][1000 genomes]
rs7288777	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30164600-30183800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:30164600-30185000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:30164600-30188600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:30166600-30183800	Weak transcription	Aorta	Aorta
5	chr22:30166800-30182800	Weak transcription	Primary T cells from cord blood	blood
6	chr22:30166800-30183000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr22:30166800-30183400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:30166800-30183800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:30166800-30184200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr22:30166800-30194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr22:30167000-30180400	Weak transcription	Fetal Brain Female	brain
12	chr22:30167000-30183400	Weak transcription	Primary B cells from cord blood	blood
13	chr22:30167000-30183600	Weak transcription	Dnd41	blood
14	chr22:30167200-30183000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr22:30167200-30183200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr22:30167200-30183200	Weak transcription	GM12878-XiMat	blood
17	chr22:30167200-30184000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr22:30167200-30184000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr22:30167200-30187800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr22:30167400-30180400	Weak transcription	Fetal Lung	lung
21	chr22:30167400-30182800	Weak transcription	Fetal Thymus	thymus
22	chr22:30167400-30183000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr22:30167400-30183000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:30167400-30183200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr22:30167400-30183600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr22:30167400-30183800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr22:30167400-30183800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:30167400-30185400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr22:30167600-30183000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr22:30168000-30182200	Weak transcription	Thymus	Thymus
31	chr22:30168800-30180200	Weak transcription	Fetal Stomach	stomach
32	chr22:30175400-30194000	Weak transcription	Hela-S3	cervix
33	chr22:30176800-30183600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr22:30177000-30189000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:30177200-30180000	Weak transcription	Brain Germinal Matrix	brain
36	chr22:30177200-30180000	Weak transcription	Fetal Brain Male	brain
37	chr22:30177200-30180400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:30177200-30181000	Weak transcription	Fetal Heart	heart
39	chr22:30177200-30183400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr22:30177200-30186000	Weak transcription	Fetal Kidney	kidney
41	chr22:30177400-30180600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:30177400-30184400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr22:30177600-30180600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr22:30177600-30181800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr22:30177600-30182000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr22:30177600-30183000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr22:30177600-30183000	Weak transcription	HUVEC	blood vessel
48	chr22:30177600-30183200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr22:30177600-30183800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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