Variant report

Variant	rs73647098
Chromosome Location	chr9:71797224-71797225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71785836..71791669-chr9:71792328..71797551,11	K562	blood:
2	chr9:71794571..71798394-chr9:71798897..71802534,4	K562	blood:

Variant related genes	Relation type
ENSG00000119139	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11999809	1.00[AMR][1000 genomes]
rs12000900	1.00[AMR][1000 genomes]
rs12001142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001188	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001706	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001842	1.00[AMR][1000 genomes]
rs12001863	1.00[AMR][1000 genomes]
rs12005295	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17062723	1.00[AMR][1000 genomes]
rs35464930	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35797487	1.00[AMR][1000 genomes]
rs4278214	1.00[AMR][1000 genomes]
rs60733257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61056981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7027812	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73447162	1.00[AMR][1000 genomes]
rs73647077	1.00[AMR][1000 genomes]
rs73647078	1.00[AMR][1000 genomes]
rs73647079	1.00[AMR][1000 genomes]
rs73647080	1.00[AMR][1000 genomes]
rs73647081	1.00[AMR][1000 genomes]
rs73647083	1.00[AMR][1000 genomes]
rs73647084	1.00[AMR][1000 genomes]
rs73647085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647086	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647087	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647088	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647092	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73649624	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73649625	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73649626	0.83[AFR][1000 genomes]
rs7864925	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7872016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9785300	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS 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	27 gene(s)	inside rSNPs	diseases
7	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv466397	chr9:71574757-71843023	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv614550	chr9:71574757-71843023	Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv1050692	chr9:71578494-71843023	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases
16	nsv893416	chr9:71597840-71888601	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
17	nsv1040539	chr9:71600042-71844108	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv540149	chr9:71600042-71844108	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv949664	chr9:71607398-71842391	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv948708	chr9:71632265-71842391	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv1037787	chr9:71635338-71807648	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv540151	chr9:71635338-71807648	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv817209	chr9:71675454-71829412	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
25	nsv508550	chr9:71679166-71809433	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	nsv893427	chr9:71762766-71858517	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71790400-71832200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:71790400-71835600	Weak transcription	Colonic Mucosa	Colon
3	chr9:71790800-71800800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:71790800-71802200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:71791200-71797800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:71791200-71802000	Weak transcription	Aorta	Aorta
7	chr9:71791200-71807600	Weak transcription	Psoas Muscle	Psoas
8	chr9:71791400-71804400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr9:71792200-71801400	Weak transcription	Fetal Kidney	kidney
10	chr9:71792200-71802400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr9:71792400-71808800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:71793200-71797600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:71793400-71797400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:71793600-71805600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:71793800-71799000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:71793800-71801000	Weak transcription	Fetal Lung	lung
17	chr9:71793800-71801200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr9:71794000-71806000	Weak transcription	Primary T cells from cord blood	blood
19	chr9:71794200-71801200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:71794200-71802400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr9:71794800-71797600	Enhancers	Brain Substantia Nigra	brain
22	chr9:71795000-71797400	Enhancers	Adipose Nuclei	Adipose
23	chr9:71795000-71797600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr9:71795000-71798400	Enhancers	Stomach Smooth Muscle	stomach
25	chr9:71795200-71797400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:71795200-71797400	Enhancers	Brain Anterior Caudate	brain
27	chr9:71795200-71797600	Enhancers	Primary hematopoietic stem cells	blood
28	chr9:71795200-71797600	Enhancers	Brain Cingulate Gyrus	brain
29	chr9:71795200-71797600	Enhancers	NHLF	lung
30	chr9:71795200-71797800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr9:71795200-71801000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr9:71795400-71797400	Enhancers	Brain Angular Gyrus	brain
33	chr9:71795600-71797400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr9:71795600-71801000	Weak transcription	HSMMtube	muscle
35	chr9:71795600-71801200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr9:71795600-71814400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr9:71795800-71797600	Enhancers	Rectal Smooth Muscle	rectum
38	chr9:71795800-71801000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr9:71795800-71801200	Weak transcription	Small Intestine	intestine
40	chr9:71795800-71802600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr9:71795800-71804200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr9:71795800-71806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr9:71796000-71797600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr9:71796000-71801000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:71796000-71801400	Weak transcription	HSMM	muscle
46	chr9:71796000-71802400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr9:71796000-71802600	Weak transcription	Gastric	stomach
48	chr9:71796000-71805600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr9:71796200-71797600	Enhancers	K562	blood
50	chr9:71796400-71797600	Enhancers	Colon Smooth Muscle	Colon

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