Variant report

Variant	rs72819623
Chromosome Location	chr17:38608588-38608589
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38608476..38611175-chr17:38612841..38616006,3	K562	blood:
2	chr17:38461615..38484404-chr17:38597525..38608992,85	MCF-7	breast:
3	chr17:38604732..38607075-chr17:38608237..38609916,2	K562	blood:
4	chr17:38606148..38608904-chr17:38656512..38658435,2	MCF-7	breast:
5	chr17:38607923..38609652-chr17:38674937..38677033,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131746	Chromatin interaction
ENSG00000131759	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10305288	1.00[AFR][1000 genomes]
rs10305293	1.00[EUR][1000 genomes]
rs10305296	1.00[AFR][1000 genomes]
rs10305297	1.00[EUR][1000 genomes]
rs10305302	1.00[EUR][1000 genomes]
rs10305303	1.00[AFR][1000 genomes]
rs10305316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs15685	1.00[AFR][1000 genomes]
rs17557495	1.00[AFR][1000 genomes]
rs17557879	1.00[AFR][1000 genomes]
rs17618397	1.00[AFR][1000 genomes]
rs17679361	1.00[AFR][1000 genomes]
rs17680217	1.00[AFR][1000 genomes]
rs17680410	1.00[AFR][1000 genomes]
rs17680507	1.00[AFR][1000 genomes]
rs17680624	1.00[AFR][1000 genomes]
rs17680685	1.00[AFR][1000 genomes]
rs17680704	1.00[AFR][1000 genomes]
rs2012667	1.00[AFR][1000 genomes]
rs2229773	1.00[AFR][1000 genomes]
rs28362321	1.00[AFR][1000 genomes]
rs33998939	1.00[AFR][1000 genomes]
rs35464732	1.00[EUR][1000 genomes]
rs35783632	1.00[AFR][1000 genomes]
rs35898909	1.00[AFR][1000 genomes]
rs41283423	1.00[AFR][1000 genomes]
rs4134993	1.00[AFR][1000 genomes]
rs4134998	1.00[AFR][1000 genomes]
rs4135005	1.00[AFR][1000 genomes]
rs4135007	1.00[AFR][1000 genomes]
rs4135012	1.00[AFR][1000 genomes]
rs4135019	1.00[AFR][1000 genomes]
rs4135021	1.00[AFR][1000 genomes]
rs4135027	1.00[AFR][1000 genomes]
rs4135030	1.00[AFR][1000 genomes]
rs72819624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819626	1.00[EUR][1000 genomes]
rs72819628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819630	1.00[AFR][1000 genomes]
rs72819631	0.93[EUR][1000 genomes]
rs72819632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819651	1.00[AFR][1000 genomes]
rs9303287	1.00[EUR][1000 genomes]
rs9895336	1.00[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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38600200-38609800	Transcr. at gene 5' and 3'	A549	lung
2	chr17:38600800-38613800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:38601800-38608600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:38601800-38612600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:38601800-38614000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr17:38602000-38608600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:38602000-38609200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:38602200-38608600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:38602200-38608800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:38602200-38609200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr17:38602200-38609600	Weak transcription	Brain Germinal Matrix	brain
12	chr17:38602200-38610400	Weak transcription	Primary B cells from cord blood	blood
13	chr17:38602200-38614000	Weak transcription	Fetal Brain Female	brain
14	chr17:38602200-38614400	Weak transcription	Brain Angular Gyrus	brain
15	chr17:38603000-38608600	Enhancers	Fetal Intestine Large	intestine
16	chr17:38603200-38609400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr17:38603400-38611000	Weak transcription	Psoas Muscle	Psoas
18	chr17:38603600-38610200	Genic enhancers	Fetal Stomach	stomach
19	chr17:38603800-38608600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:38603800-38608600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr17:38604800-38610600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr17:38605000-38609200	Enhancers	Left Ventricle	heart
23	chr17:38605000-38609600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr17:38605000-38610000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:38605000-38614800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:38605200-38608600	Weak transcription	Brain Substantia Nigra	brain
27	chr17:38605200-38608800	Enhancers	Ovary	ovary
28	chr17:38605200-38609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:38605200-38609200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr17:38605200-38609200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr17:38605200-38609600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr17:38605200-38611000	Genic enhancers	Muscle Satellite Cultured Cells	--
33	chr17:38605200-38614400	Weak transcription	Thymus	Thymus
34	chr17:38605400-38608600	Weak transcription	HSMM	muscle
35	chr17:38605400-38608600	Weak transcription	HSMMtube	muscle
36	chr17:38605400-38609200	Weak transcription	HMEC	breast
37	chr17:38605400-38613200	Weak transcription	Fetal Thymus	thymus
38	chr17:38605400-38616800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:38605600-38608600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr17:38605600-38608600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:38605600-38608600	Enhancers	Rectal Smooth Muscle	rectum
42	chr17:38605600-38608600	Weak transcription	Dnd41	blood
43	chr17:38605600-38609000	Enhancers	Colonic Mucosa	Colon
44	chr17:38605600-38609000	Weak transcription	Hela-S3	cervix
45	chr17:38605600-38609200	Enhancers	Duodenum Mucosa	Duodenum
46	chr17:38605600-38609200	Weak transcription	Gastric	stomach
47	chr17:38605600-38610200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:38605600-38612200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:38606000-38608800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr17:38606000-38608800	Enhancers	Spleen	Spleen

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