Variant report

Variant	rs35464930
Chromosome Location	chr9:71828136-71828137
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71826504..71828292-chr9:71833084..71835143,2	K562	blood:
2	chr9:71818288..71822682-chr9:71823295..71828458,5	K562	blood:
3	chr9:71807885..71810232-chr9:71825677..71828863,3	K562	blood:

Variant related genes	Relation type
ENSG00000119139	Chromatin interaction

Extended variants
information (count: 57 )
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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001188	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001394	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001706	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001842	1.00[AMR][1000 genomes]
rs12001863	1.00[AMR][1000 genomes]
rs12005295	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17062723	1.00[AMR][1000 genomes]
rs35797487	1.00[AMR][1000 genomes]
rs4278214	1.00[AMR][1000 genomes]
rs60733257	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61056981	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7027812	1.00[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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647086	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647087	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647088	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647089	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647090	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647092	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647098	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647099	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73647100	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73649624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73649625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73649626	0.93[AFR][1000 genomes]
rs7864925	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7872016	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9785300	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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:82 , 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	chr9:71797200-71832000	Weak transcription	Esophagus	oesophagus
4	chr9:71804000-71831800	Weak transcription	Aorta	Aorta
5	chr9:71807400-71832200	Weak transcription	Primary T cells from cord blood	blood
6	chr9:71807800-71842800	Weak transcription	Small Intestine	intestine
7	chr9:71810400-71832400	Weak transcription	GM12878-XiMat	blood
8	chr9:71815000-71830000	Weak transcription	HUVEC	blood vessel
9	chr9:71815200-71832200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr9:71815400-71830000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr9:71816000-71831200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:71816600-71830600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr9:71819600-71830000	Weak transcription	Fetal Intestine Large	intestine
14	chr9:71819800-71842200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:71820000-71828600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:71820200-71828600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:71820200-71831000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:71820200-71831200	Weak transcription	NHEK	skin
19	chr9:71820200-71831800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:71820200-71831800	Weak transcription	Placenta	Placenta
21	chr9:71820200-71832000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:71820200-71832400	Weak transcription	HMEC	breast
23	chr9:71820200-71833000	Weak transcription	HSMM	muscle
24	chr9:71820200-71842200	Weak transcription	NH-A	brain
25	chr9:71820400-71828400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:71820400-71830600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:71820400-71832000	Weak transcription	Osteobl	bone
28	chr9:71820400-71833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:71820400-71840400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:71820400-71842200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:71820800-71830400	Weak transcription	Fetal Stomach	stomach
32	chr9:71820800-71831200	Weak transcription	NHLF	lung
33	chr9:71820800-71831600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:71820800-71835800	Weak transcription	Psoas Muscle	Psoas
35	chr9:71820800-71840200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:71821400-71840200	Weak transcription	Brain Anterior Caudate	brain
37	chr9:71822800-71828200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr9:71822800-71828600	Weak transcription	Pancreas	Pancrea
39	chr9:71822800-71830200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr9:71822800-71831800	Weak transcription	Lung	lung
41	chr9:71822800-71832000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:71822800-71836000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:71823000-71830800	Weak transcription	Fetal Lung	lung
44	chr9:71823000-71831000	Weak transcription	Brain Substantia Nigra	brain
45	chr9:71823000-71832200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr9:71823000-71832200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr9:71823000-71835800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:71823200-71828400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr9:71823400-71831400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr9:71823800-71831000	Weak transcription	Brain Inferior Temporal Lobe	brain

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