Variant report

Variant	rs9894625
Chromosome Location	chr17:38436696-38436697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38423076..38425248-chr17:38435315..38437633,3	K562	blood:
2	chr17:38435998..38438899-chr17:38441789..38443816,3	K562	blood:
3	chr17:38415267..38417684-chr17:38435247..38437788,2	K562	blood:
4	chr17:38428951..38431725-chr17:38436577..38439174,2	K562	blood:

Variant related genes	Relation type
ENSG00000171475	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11078940	0.89[EUR][1000 genomes]
rs12051734	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12103711	0.91[ASN][1000 genomes]
rs12946680	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13706	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16965687	0.90[EUR][1000 genomes]
rs1807273	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2077464	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2120200	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs28537537	0.89[EUR][1000 genomes]
rs28663197	0.89[EUR][1000 genomes]
rs36030243	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4077125	0.84[EUR][1000 genomes]
rs4134994	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55656553	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56029626	0.86[EUR][1000 genomes]
rs57179137	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58822685	0.99[EUR][1000 genomes]
rs59406133	0.89[EUR][1000 genomes]
rs59490243	0.84[EUR][1000 genomes]
rs60220138	0.97[EUR][1000 genomes]
rs7217852	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72836635	0.85[EUR][1000 genomes]
rs72836636	0.87[EUR][1000 genomes]
rs72836639	0.87[EUR][1000 genomes]
rs72836641	0.87[EUR][1000 genomes]
rs72836642	0.87[EUR][1000 genomes]
rs72836648	0.87[EUR][1000 genomes]
rs72836651	0.97[EUR][1000 genomes]
rs72836653	0.97[EUR][1000 genomes]
rs72836656	0.99[EUR][1000 genomes]
rs72836660	0.99[EUR][1000 genomes]
rs7359537	0.89[EUR][1000 genomes]
rs73983025	0.99[EUR][1000 genomes]
rs8078226	0.84[EUR][1000 genomes]
rs9303285	0.82[ASN][1000 genomes]
rs9303286	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9891694	0.84[EUR][1000 genomes]
rs9892404	0.89[EUR][1000 genomes]
rs9892946	0.84[EUR][1000 genomes]
rs9893520	0.90[EUR][1000 genomes]
rs9896312	0.81[ASN][1000 genomes]
rs9897092	0.90[EUR][1000 genomes]
rs9904270	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9906409	0.90[EUR][1000 genomes]
rs9908257	0.99[EUR][1000 genomes]
rs9910197	0.83[EUR][1000 genomes]
rs9914531	0.97[EUR][1000 genomes]
rs9916460	0.99[EUR][1000 genomes]
rs9916782	0.90[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	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38409600-38437400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr17:38409800-38439400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:38411000-38438800	Strong transcription	Fetal Intestine Small	intestine
4	chr17:38411000-38439800	Strong transcription	Fetal Stomach	stomach
5	chr17:38412200-38438400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr17:38412200-38439800	Strong transcription	Fetal Thymus	thymus
7	chr17:38412400-38437600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr17:38412400-38438600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:38412400-38438600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:38412600-38437600	Strong transcription	Placenta	Placenta
11	chr17:38412600-38438600	Strong transcription	Fetal Intestine Large	intestine
12	chr17:38412600-38439200	Strong transcription	Fetal Muscle Leg	muscle
13	chr17:38412600-38439200	Strong transcription	Lung	lung
14	chr17:38413000-38438800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:38417600-38439400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr17:38420400-38439200	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr17:38423200-38437400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:38423600-38437800	Weak transcription	Fetal Heart	heart
19	chr17:38426000-38437000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:38426200-38437600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr17:38426400-38438800	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr17:38426600-38437400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr17:38426600-38437600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:38426600-38437800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr17:38426600-38437800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr17:38426600-38437800	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr17:38426600-38437800	Strong transcription	HepG2	liver
28	chr17:38426600-38438000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr17:38426600-38438000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:38426600-38438000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:38426600-38438600	Strong transcription	GM12878-XiMat	blood
32	chr17:38426600-38438800	Strong transcription	Dnd41	blood
33	chr17:38426600-38439000	Strong transcription	Primary T cells from cord blood	blood
34	chr17:38426600-38439000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr17:38426600-38439200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr17:38426600-38439200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr17:38426600-38440600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr17:38426800-38437400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr17:38426800-38437400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr17:38426800-38437600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:38426800-38437800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr17:38426800-38438000	Strong transcription	Osteobl	bone
43	chr17:38426800-38438200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr17:38426800-38438800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:38426800-38438800	Strong transcription	HSMM	muscle
46	chr17:38426800-38439000	Strong transcription	Liver	Liver
47	chr17:38426800-38439000	Strong transcription	Fetal Lung	lung
48	chr17:38426800-38439200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:38427000-38438400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr17:38427000-38438600	Strong transcription	Brain Substantia Nigra	brain

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