Variant report

Variant	rs73743121
Chromosome Location	chr5:9623115-9623116
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:9617196..9618905-chr5:9622707..9624345,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10036822	1.00[ASN][1000 genomes]
rs10513025	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513026	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959099	1.00[ASN][1000 genomes]
rs1508796	1.00[ASN][1000 genomes]
rs16883185	1.00[ASN][1000 genomes]
rs16883317	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883340	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17264244	1.00[ASN][1000 genomes]
rs2234235	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28884498	0.91[EUR][1000 genomes]
rs3913498	1.00[ASN][1000 genomes]
rs4094231	1.00[ASN][1000 genomes]
rs62341162	1.00[ASN][1000 genomes]
rs62342598	1.00[ASN][1000 genomes]
rs62342599	1.00[ASN][1000 genomes]
rs62342602	1.00[ASN][1000 genomes]
rs62342603	1.00[ASN][1000 genomes]
rs62342605	1.00[ASN][1000 genomes]
rs62342606	1.00[ASN][1000 genomes]
rs62342608	1.00[ASN][1000 genomes]
rs62342620	1.00[ASN][1000 genomes]
rs62342624	1.00[ASN][1000 genomes]
rs62342652	1.00[ASN][1000 genomes]
rs6894474	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv597071	chr5:9182376-9760599	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1032672	chr5:9182409-9843893	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1035075	chr5:9182584-9843723	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv537641	chr5:9182584-9843723	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1034637	chr5:9182784-9741743	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv537642	chr5:9182784-9741743	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1028656	chr5:9196001-9837040	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1022137	chr5:9225121-9745434	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv537643	chr5:9225121-9745434	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1022574	chr5:9314645-9647238	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv869120	chr5:9491731-10149255	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv1023329	chr5:9543307-9731720	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv529455	chr5:9570606-10269569	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
15	nsv1021115	chr5:9609873-9714831	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1031121	chr5:9617702-10155550	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv537645	chr5:9617702-10155550	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9603400-9625400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:9614000-9628200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:9617800-9623200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:9620000-9623400	Weak transcription	Gastric	stomach
5	chr5:9620200-9623400	Weak transcription	Placenta	Placenta
6	chr5:9620200-9623400	Weak transcription	Left Ventricle	heart
7	chr5:9620200-9623400	Weak transcription	Psoas Muscle	Psoas
8	chr5:9621000-9623600	Enhancers	Fetal Heart	heart
9	chr5:9621200-9624200	Enhancers	NHDF-Ad	bronchial
10	chr5:9621200-9624400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:9621200-9625000	Enhancers	Osteobl	bone
12	chr5:9621400-9623800	Enhancers	Stomach Mucosa	stomach
13	chr5:9621400-9625000	Enhancers	NH-A	brain
14	chr5:9621600-9623400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:9621600-9624000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:9621800-9623200	Weak transcription	Aorta	Aorta
17	chr5:9621800-9623200	Enhancers	Duodenum Mucosa	Duodenum
18	chr5:9621800-9623400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:9621800-9623800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:9621800-9624600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:9621800-9624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:9622000-9623200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:9622000-9623200	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:9622000-9623400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:9622000-9625000	Enhancers	NHLF	lung
26	chr5:9622200-9624600	Enhancers	HSMMtube	muscle
27	chr5:9622400-9623400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:9622600-9624400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr5:9622600-9624600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:9622800-9623600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:9622800-9623600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:9622800-9623600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:9622800-9623800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:9623000-9623600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:9623000-9623600	Enhancers	Fetal Brain Male	brain
36	chr5:9623000-9623600	Enhancers	Fetal Lung	lung
37	chr5:9623000-9623800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:9623000-9624000	Enhancers	Fetal Brain Female	brain

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