Variant report

Variant	rs7223389
Chromosome Location	chr17:46222659-46222660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46210943..46212654-chr17:46221512..46223220,2	K562	blood:
2	chr17:46222057..46223830-chr17:46225566..46227649,2	K562	blood:
3	chr17:46221592..46224484-chr17:46225566..46228411,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16953055	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16953361	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16953800	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16953909	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16953910	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16954469	0.87[YRI][hapmap]
rs16955049	0.88[YRI][hapmap]
rs16955553	0.88[YRI][hapmap]
rs17620866	1.00[YRI][hapmap]
rs17694404	1.00[YRI][hapmap]
rs2875747	0.82[ASW][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs4793760	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4794402	1.00[YRI][hapmap]
rs7208490	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8076309	0.88[YRI][hapmap]
rs8077950	0.83[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9747665	0.82[ASW][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr17:46204200-46225200	Weak transcription	Liver	Liver
3	chr17:46210000-46224200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr17:46211200-46231600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:46212400-46234800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr17:46215400-46225400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:46216400-46251400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr17:46216600-46235600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr17:46218000-46224200	Weak transcription	Primary B cells from cord blood	blood
10	chr17:46218200-46224800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:46220600-46225600	Strong transcription	Primary T cells from cord blood	blood
12	chr17:46220800-46227200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr17:46220800-46228400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr17:46220800-46249000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:46221200-46228000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr17:46221400-46230800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:46221600-46222800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr17:46221600-46222800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:46221600-46225400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr17:46221600-46225400	Weak transcription	Thymus	Thymus
21	chr17:46221600-46225600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:46221600-46226800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:46221600-46238400	Weak transcription	Fetal Thymus	thymus
24	chr17:46221800-46223200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:46222000-46222800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr17:46222000-46224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr17:46222200-46223600	Enhancers	GM12878-XiMat	blood
28	chr17:46222400-46223400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:46222400-46223400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr17:46222600-46223400	Enhancers	Fetal Intestine Small	intestine

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