Variant report

Variant	rs9904120
Chromosome Location	chr17:38310731-38310732
allele	C/T
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	chr17:38259645..38262257-chr17:38309453..38311215,2	MCF-7	breast:
3	chr17:38294955..38299913-chr17:38310611..38315014,6	K562	blood:
4	chr17:38269045..38271015-chr17:38309924..38312531,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221555	Chromatin interaction
ENSG00000108349	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28410661	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28750099	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9896339	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9906274	0.95[AFR][1000 genomes]
rs9909548	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9910546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9911936	0.89[AFR][1000 genomes];1.00[AMR][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	chr17:38298000-38310800	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr17:38298000-38311800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:38298000-38324200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr17:38298000-38330400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr17:38298000-38330800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:38298200-38313000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr17:38298200-38313600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:38298200-38318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:38298200-38318200	Weak transcription	Small Intestine	intestine
17	chr17:38298200-38324200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:38298200-38324400	Strong transcription	Fetal Stomach	stomach
19	chr17:38298200-38333000	Strong transcription	Fetal Thymus	thymus
20	chr17:38298400-38324200	Weak transcription	Fetal Heart	heart
21	chr17:38298600-38316400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr17:38298600-38319600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr17:38298600-38332200	Strong transcription	Fetal Intestine Small	intestine
24	chr17:38298800-38313200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr17:38298800-38314000	Strong transcription	Fetal Muscle Leg	muscle
26	chr17:38299200-38319600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:38300000-38312200	Strong transcription	Fetal Intestine Large	intestine
28	chr17:38301400-38313400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr17:38301600-38324200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:38301800-38313200	Strong transcription	Placenta	Placenta
31	chr17:38301800-38313200	Strong transcription	Osteobl	bone
32	chr17:38301800-38324200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:38302200-38312200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr17:38302200-38313200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr17:38302400-38312600	Strong transcription	Fetal Lung	lung
36	chr17:38302800-38312400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr17:38302800-38313200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:38303000-38310800	Strong transcription	Esophagus	oesophagus
39	chr17:38303000-38324400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr17:38303200-38310800	Strong transcription	NHEK	skin
41	chr17:38303400-38311200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr17:38303400-38313200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:38303600-38311800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:38304000-38311600	Strong transcription	HepG2	liver
45	chr17:38304000-38311800	Strong transcription	Thymus	Thymus
46	chr17:38304000-38312200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr17:38304000-38313400	Strong transcription	Dnd41	blood
48	chr17:38304000-38314200	Weak transcription	Psoas Muscle	Psoas
49	chr17:38304000-38315200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr17:38304200-38312600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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