Variant report

Variant	rs72819628
Chromosome Location	chr17:38611026-38611027
allele	A/G
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	chr17:38456318..38459056-chr17:38610641..38612349,2	MCF-7	breast:
3	chr17:38549268..38552094-chr17:38610540..38613007,2	K562	blood:
4	chr17:38609401..38611943-chr17:38614441..38615996,2	MCF-7	breast:
5	chr17:38601392..38604207-chr17:38609285..38611713,3	K562	blood:
6	chr17:38598393..38602288-chr17:38609197..38612044,3	MCF-7	breast:
7	chr17:38516097..38519069-chr17:38610006..38611694,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266208	Chromatin interaction
ENSG00000141753	Chromatin interaction

Extended variants
information (count: 46 )
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]
rs72819623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819626	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:1 , 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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38600800-38613800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:38601800-38612600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:38601800-38614000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr17:38602200-38614000	Weak transcription	Fetal Brain Female	brain
5	chr17:38602200-38614400	Weak transcription	Brain Angular Gyrus	brain
6	chr17:38605000-38614800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr17:38605200-38614400	Weak transcription	Thymus	Thymus
8	chr17:38605400-38613200	Weak transcription	Fetal Thymus	thymus
9	chr17:38605400-38616800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr17:38605600-38612200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:38606400-38616400	Weak transcription	K562	blood
12	chr17:38606600-38612400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr17:38606600-38614400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:38606600-38617400	Weak transcription	Small Intestine	intestine
15	chr17:38607000-38615000	Genic enhancers	Liver	Liver
16	chr17:38607600-38618400	Genic enhancers	NHLF	lung
17	chr17:38607800-38611200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:38607800-38614000	Weak transcription	Brain Hippocampus Middle	brain
19	chr17:38607800-38615400	Strong transcription	HUVEC	blood vessel
20	chr17:38608200-38611200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr17:38608400-38611200	Genic enhancers	Right Ventricle	heart
22	chr17:38608400-38613200	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr17:38608400-38613800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr17:38608600-38611200	Genic enhancers	Stomach Mucosa	stomach
25	chr17:38608600-38612800	Weak transcription	Pancreas	Pancrea
26	chr17:38608600-38613600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:38608600-38613800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr17:38608600-38613800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:38608600-38614000	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr17:38608600-38614400	Genic enhancers	Colon Smooth Muscle	Colon
31	chr17:38608600-38615400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:38608600-38615600	Strong transcription	Dnd41	blood
33	chr17:38608800-38611200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:38608800-38613200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr17:38608800-38613200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr17:38608800-38613600	Strong transcription	Fetal Intestine Small	intestine
37	chr17:38608800-38614200	Weak transcription	Brain Substantia Nigra	brain
38	chr17:38608800-38615800	Genic enhancers	NHDF-Ad	bronchial
39	chr17:38608800-38616400	Genic enhancers	Osteobl	bone
40	chr17:38609000-38611200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr17:38609000-38611200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr17:38609000-38612800	Strong transcription	Fetal Intestine Large	intestine
43	chr17:38609000-38613200	Weak transcription	HSMMtube	muscle
44	chr17:38609000-38614000	Strong transcription	Placenta	Placenta
45	chr17:38609000-38615000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr17:38609200-38611200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr17:38609200-38611200	Genic enhancers	Adipose Nuclei	Adipose
48	chr17:38609200-38611200	Enhancers	NHEK	skin
49	chr17:38609200-38611800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr17:38609200-38613200	Weak transcription	Aorta	Aorta

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