Variant report

Variant	rs17678990
Chromosome Location	chr17:38312093-38312094
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38304166..38308034-chr17:38310603..38312642,3	K562	blood:
2	chr17:38277521..38279898-chr17:38311812..38313634,2	MCF-7	breast:
3	chr17:38294955..38299913-chr17:38310611..38315014,6	K562	blood:
4	chr17:38269045..38271015-chr17:38309924..38312531,2	MCF-7	breast:
5	chr17:38293161..38298058-chr17:38311065..38315666,6	K562	blood:

Variant related genes	Relation type
ENSG00000188895	Chromatin interaction
ENSG00000221555	Chromatin interaction
ENSG00000108349	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10512482	0.92[EUR][1000 genomes]
rs1104761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11540720	0.92[EUR][1000 genomes]
rs12103533	0.92[EUR][1000 genomes]
rs15685	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16965660	0.92[EUR][1000 genomes]
rs16965669	0.92[EUR][1000 genomes]
rs16965734	0.92[EUR][1000 genomes]
rs16965736	0.92[EUR][1000 genomes]
rs16965748	0.92[EUR][1000 genomes]
rs16965774	0.92[EUR][1000 genomes]
rs16965778	0.92[EUR][1000 genomes]
rs17616365	1.00[AMR][1000 genomes]
rs17616543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17616672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17616879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17617263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17618397	1.00[AFR][1000 genomes]
rs17678817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17678959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17679038	1.00[AFR][1000 genomes]
rs17679086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17679361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2012667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28362320	0.92[EUR][1000 genomes]
rs28362321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28526298	0.92[EUR][1000 genomes]
rs33998939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34270904	0.92[EUR][1000 genomes]
rs34300454	0.92[EUR][1000 genomes]
rs35783632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35898909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41283417	0.92[EUR][1000 genomes]
rs41283423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4134993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4134998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45612441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7214783	0.85[EUR][1000 genomes]
rs8067519	0.92[EUR][1000 genomes]
rs8071687	0.92[EUR][1000 genomes]
rs8077482	0.92[EUR][1000 genomes]
rs9889905	0.92[EUR][1000 genomes]
rs9891944	1.00[EUR][1000 genomes]
rs9894364	0.92[EUR][1000 genomes]
rs9894807	0.92[EUR][1000 genomes]
rs9898500	0.92[EUR][1000 genomes]
rs9899425	0.92[EUR][1000 genomes]
rs9900154	0.92[EUR][1000 genomes]
rs9903293	0.92[EUR][1000 genomes]
rs9906274	1.00[EUR][1000 genomes]
rs9909777	0.92[EUR][1000 genomes]
rs9909811	0.92[EUR][1000 genomes]
rs9910373	0.92[EUR][1000 genomes]
rs9915775	0.92[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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38297600-38313400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:38297600-38318200	Weak transcription	Aorta	Aorta
3	chr17:38297600-38318200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:38297600-38325200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:38297800-38318400	Weak transcription	Stomach Mucosa	stomach
6	chr17:38297800-38333000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr17:38297800-38336600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr17:38298000-38324200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr17:38298000-38330400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:38298000-38330800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:38298200-38313000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr17:38298200-38313600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:38298200-38318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr17:38298200-38318200	Weak transcription	Small Intestine	intestine
15	chr17:38298200-38324200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:38298200-38324400	Strong transcription	Fetal Stomach	stomach
17	chr17:38298200-38333000	Strong transcription	Fetal Thymus	thymus
18	chr17:38298400-38324200	Weak transcription	Fetal Heart	heart
19	chr17:38298600-38316400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr17:38298600-38319600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr17:38298600-38332200	Strong transcription	Fetal Intestine Small	intestine
22	chr17:38298800-38313200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr17:38298800-38314000	Strong transcription	Fetal Muscle Leg	muscle
24	chr17:38299200-38319600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:38300000-38312200	Strong transcription	Fetal Intestine Large	intestine
26	chr17:38301400-38313400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr17:38301600-38324200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:38301800-38313200	Strong transcription	Placenta	Placenta
29	chr17:38301800-38313200	Strong transcription	Osteobl	bone
30	chr17:38301800-38324200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:38302200-38312200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:38302200-38313200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr17:38302400-38312600	Strong transcription	Fetal Lung	lung
34	chr17:38302800-38312400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr17:38302800-38313200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr17:38303000-38324400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr17:38303400-38313200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:38304000-38312200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr17:38304000-38313400	Strong transcription	Dnd41	blood
40	chr17:38304000-38314200	Weak transcription	Psoas Muscle	Psoas
41	chr17:38304000-38315200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr17:38304200-38312600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr17:38304600-38313400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr17:38305200-38318200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr17:38306600-38314200	Weak transcription	Right Atrium	heart
46	chr17:38306800-38312600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr17:38306800-38313000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr17:38306800-38314200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr17:38306800-38314800	Weak transcription	Brain Angular Gyrus	brain
50	chr17:38306800-38318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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