Variant report

Variant	rs9892946
Chromosome Location	chr17:38432275-38432276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38431588..38433963-chr17:38444091..38445721,2	K562	blood:
2	chr17:38421614..38424378-chr17:38430990..38433490,2	K562	blood:

Variant related genes	Relation type
ENSG00000094804	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11078939	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11078940	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12944717	0.81[ASN][1000 genomes]
rs12946680	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13706	0.81[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs16965666	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs16965687	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.92[ASN][1000 genomes]
rs1807273	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2077464	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2120200	0.81[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap]
rs2280400	0.94[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap]
rs2314338	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs28537537	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.92[ASN][1000 genomes]
rs28663197	0.95[ASN][1000 genomes]
rs35286757	0.91[EUR][1000 genomes]
rs36030243	0.81[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap]
rs3744806	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs4077125	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4134994	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4566234	0.91[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55656553	0.86[AMR][1000 genomes]
rs55835834	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56029626	0.83[ASN][1000 genomes]
rs57179137	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58822685	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59018914	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59406133	0.80[AMR][1000 genomes]
rs59490243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59861136	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60220138	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6503539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[MEX][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67597966	0.82[ASN][1000 genomes]
rs7211770	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs7217852	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs72836634	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72836635	0.82[ASN][1000 genomes]
rs72836636	0.83[ASN][1000 genomes]
rs72836639	0.83[ASN][1000 genomes]
rs72836640	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72836641	0.85[ASN][1000 genomes]
rs72836642	0.90[ASN][1000 genomes]
rs72836648	0.92[ASN][1000 genomes]
rs72836651	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72836653	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72836656	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72836660	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359537	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.92[ASN][1000 genomes]
rs73983025	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7405635	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap]
rs8066144	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap]
rs8073925	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs8078204	0.84[ASN][1000 genomes]
rs8078226	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080931	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8082192	0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap]
rs9303285	1.00[CEU][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs9303286	0.85[CEU][hapmap]
rs9891694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891718	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9892404	0.92[ASN][1000 genomes]
rs9893520	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9894625	0.84[EUR][1000 genomes]
rs9895163	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9897092	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9901109	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9904021	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9904270	0.81[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes]
rs9906409	0.92[ASN][1000 genomes]
rs9907683	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs9908034	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9908257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9910197	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9910788	0.87[ASN][1000 genomes]
rs9911840	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9912082	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9914531	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9916460	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9916782	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.92[ASN][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	chr17:38409800-38434800	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr17:38409800-38439400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:38411000-38438800	Strong transcription	Fetal Intestine Small	intestine
5	chr17:38411000-38439800	Strong transcription	Fetal Stomach	stomach
6	chr17:38412200-38434800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:38412200-38438400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr17:38412200-38439800	Strong transcription	Fetal Thymus	thymus
9	chr17:38412400-38437600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr17:38412400-38438600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr17:38412400-38438600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr17:38412600-38437600	Strong transcription	Placenta	Placenta
13	chr17:38412600-38438600	Strong transcription	Fetal Intestine Large	intestine
14	chr17:38412600-38439200	Strong transcription	Fetal Muscle Leg	muscle
15	chr17:38412600-38439200	Strong transcription	Lung	lung
16	chr17:38413000-38438800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:38416200-38436400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr17:38417600-38439400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr17:38420400-38439200	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr17:38421400-38435200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:38422200-38435400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr17:38422800-38433000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr17:38423200-38437400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr17:38423600-38437800	Weak transcription	Fetal Heart	heart
25	chr17:38423800-38434200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr17:38424600-38435200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:38425400-38435000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:38426000-38437000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:38426200-38436600	Strong transcription	A549	lung
30	chr17:38426200-38437600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:38426400-38438800	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:38426600-38435200	Strong transcription	Brain Germinal Matrix	brain
33	chr17:38426600-38437400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr17:38426600-38437600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:38426600-38437800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr17:38426600-38437800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr17:38426600-38437800	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr17:38426600-38437800	Strong transcription	HepG2	liver
39	chr17:38426600-38438000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:38426600-38438000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:38426600-38438000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:38426600-38438600	Strong transcription	GM12878-XiMat	blood
43	chr17:38426600-38438800	Strong transcription	Dnd41	blood
44	chr17:38426600-38439000	Strong transcription	Primary T cells from cord blood	blood
45	chr17:38426600-38439000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr17:38426600-38439200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr17:38426600-38439200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr17:38426600-38440600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:38426800-38437400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr17:38426800-38437400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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