Variant report

Variant	rs35670307
Chromosome Location	chr1:228588654-228588655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:228578293-228588731	K562	blood:	n/a	n/a
2	CCNT2	chr1:228588605-228588785	K562	blood:	n/a	n/a
3	POLR2A	chr1:228587816-228588914	HL-60	blood:	n/a	n/a
4	MAFK	chr1:228588203-228588753	IMR90	lung:	n/a	chr1:228588493-228588509 chr1:228588494-228588508 chr1:228588500-228588511 chr1:228588497-228588507 chr1:228588498-228588507 chr1:228588491-228588511 chr1:228588495-228588504 chr1:228588496-228588511
5	POLR2A	chr1:228588413-228588745	GM12878	blood:	n/a	n/a
6	MAFF	chr1:228588256-228588711	HepG2	liver:	n/a	chr1:228588495-228588513 chr1:228588494-228588508
7	POLR2A	chr1:228587609-228591444	K562	blood:	n/a	n/a
8	POLR2A	chr1:228587616-228591433	K562	blood:	n/a	n/a
9	POLR2A	chr1:228588429-228588664	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:228587609-228588885	K562	blood:	n/a	n/a
11	MAFK	chr1:228588254-228588739	K562	blood:	n/a	chr1:228588493-228588509 chr1:228588494-228588508 chr1:228588500-228588511 chr1:228588497-228588507 chr1:228588498-228588507 chr1:228588491-228588511 chr1:228588495-228588504 chr1:228588496-228588511
12	MAFF	chr1:228588279-228588698	K562	blood:	n/a	chr1:228588495-228588513 chr1:228588494-228588508
13	POLR2A	chr1:228588497-228588808	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:228588312-228588987	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:228588399-228588909	GM12878	blood:	n/a	n/a
16	MAFK	chr1:228588195-228588714	Hela-S3	cervix:	n/a	chr1:228588493-228588509 chr1:228588494-228588508 chr1:228588500-228588511 chr1:228588497-228588507 chr1:228588498-228588507 chr1:228588491-228588511 chr1:228588495-228588504 chr1:228588496-228588511
17	MAFK	chr1:228588282-228588692	HepG2	liver:	n/a	chr1:228588493-228588509 chr1:228588494-228588508 chr1:228588500-228588511 chr1:228588497-228588507 chr1:228588498-228588507 chr1:228588491-228588511 chr1:228588495-228588504 chr1:228588496-228588511
18	MAFK	chr1:228588128-228588780	GM12878	blood:	n/a	chr1:228588493-228588509 chr1:228588494-228588508 chr1:228588500-228588511 chr1:228588497-228588507 chr1:228588498-228588507 chr1:228588491-228588511 chr1:228588495-228588504 chr1:228588496-228588511
19	MAFK	chr1:228588132-228588726	HepG2	liver:	n/a	chr1:228588493-228588509 chr1:228588494-228588508 chr1:228588500-228588511 chr1:228588497-228588507 chr1:228588498-228588507 chr1:228588491-228588511 chr1:228588495-228588504 chr1:228588496-228588511
20	MAFK	chr1:228588198-228588711	H1-hESC	embryonic stem cell:	n/a	chr1:228588493-228588509 chr1:228588494-228588508 chr1:228588500-228588511 chr1:228588497-228588507 chr1:228588498-228588507 chr1:228588491-228588511 chr1:228588495-228588504 chr1:228588496-228588511
21	POLR2A	chr1:228587922-228591311	K562	blood:	n/a	n/a
22	POLR2A	chr1:228587672-228588805	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228587185..228589255-chr1:228643525..228646287,2	MCF-7	breast:
2	chr1:228564619..228567322-chr1:228586999..228589515,4	MCF-7	breast:
3	chr1:228585905..228588750-chr1:228676571..228678465,2	MCF-7	breast:
4	chr1:228585219..228604537-chr1:228641966..228650471,45	MCF-7	breast:

Variant related genes	Relation type
TRIM11	TF binding region
ENSG00000168159	Chromatin interaction
ENSG00000266174	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000181218	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10158088	0.84[EUR][1000 genomes]
rs1188475	0.89[EUR][1000 genomes]
rs12061642	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12082349	0.81[EUR][1000 genomes]
rs12085738	0.81[EUR][1000 genomes]
rs12093491	0.81[EUR][1000 genomes]
rs12094956	0.81[EUR][1000 genomes]
rs12096217	0.87[EUR][1000 genomes]
rs12691493	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12735877	0.81[EUR][1000 genomes]
rs12751024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12760907	0.81[EUR][1000 genomes]
rs13373984	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34090141	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35055992	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35553922	0.93[EUR][1000 genomes]
rs3738687	0.81[EUR][1000 genomes]
rs474600	0.84[EUR][1000 genomes]
rs503203	0.83[EUR][1000 genomes]
rs503391	0.84[EUR][1000 genomes]
rs532465	0.84[EUR][1000 genomes]
rs56174824	0.81[EUR][1000 genomes]
rs564309	0.84[EUR][1000 genomes]
rs61825336	0.84[EUR][1000 genomes]
rs61825338	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61827276	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
5	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	nsv873270	chr1:228442663-228699477	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1009891	chr1:228450763-228742676	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv517545	chr1:228456147-228685999	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
9	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
10	nsv468271	chr1:228464248-228601638	Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv468283	chr1:228464248-228601638	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv468294	chr1:228464248-228601638	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv549295	chr1:228464248-228601638	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv470780	chr1:228464248-228606965	Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv873279	chr1:228494790-228681195	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
16	nsv873280	chr1:228500627-228603029	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv873281	chr1:228505739-228656780	Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
18	esv1808261	chr1:228509427-228674518	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
19	esv2829948	chr1:228509427-228687948	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
20	nsv508697	chr1:228540037-228622614	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
21	nsv549296	chr1:228585837-228720480	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 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	chr1:228567000-228592800	Weak transcription	Fetal Kidney	kidney
2	chr1:228571000-228591600	Weak transcription	Fetal Brain Male	brain
3	chr1:228577000-228592600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:228577400-228590800	Weak transcription	Right Atrium	heart
5	chr1:228579000-228590600	Strong transcription	Gastric	stomach
6	chr1:228579000-228591200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:228579000-228592000	Strong transcription	Fetal Stomach	stomach
8	chr1:228579400-228590600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr1:228579400-228590800	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:228579400-228591800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:228579400-228592000	Strong transcription	Fetal Intestine Small	intestine
12	chr1:228579600-228591000	Strong transcription	Liver	Liver
13	chr1:228579600-228591600	Strong transcription	Fetal Brain Female	brain
14	chr1:228579600-228591600	Strong transcription	Thymus	Thymus
15	chr1:228579600-228592000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:228579800-228590800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:228579800-228591800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:228579800-228591800	Strong transcription	Brain Germinal Matrix	brain
19	chr1:228579800-228591800	Strong transcription	Fetal Thymus	thymus
20	chr1:228579800-228592600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:228580000-228591200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:228580000-228591800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:228580000-228592000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:228580200-228591800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:228580800-228590600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr1:228581000-228592400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:228581200-228592800	Weak transcription	Psoas Muscle	Psoas
28	chr1:228581400-228589400	Strong transcription	Dnd41	blood
29	chr1:228581600-228591200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr1:228581600-228591200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr1:228581600-228592000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:228581600-228592000	Strong transcription	A549	lung
33	chr1:228581800-228590000	Strong transcription	Esophagus	oesophagus
34	chr1:228581800-228590000	Strong transcription	NHEK	skin
35	chr1:228581800-228591200	Strong transcription	Fetal Intestine Large	intestine
36	chr1:228582000-228589200	Strong transcription	Pancreas	Pancrea
37	chr1:228582000-228590200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:228582000-228590400	Strong transcription	Right Ventricle	heart
39	chr1:228582000-228590800	Strong transcription	Brain Hippocampus Middle	brain
40	chr1:228582000-228591000	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:228582000-228591200	Strong transcription	Ovary	ovary
42	chr1:228582000-228591200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr1:228582000-228591800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:228582000-228592200	Weak transcription	Fetal Heart	heart
45	chr1:228582200-228588800	Strong transcription	Adipose Nuclei	Adipose
46	chr1:228582200-228589600	Strong transcription	Lung	lung
47	chr1:228582200-228590600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:228582200-228590800	Strong transcription	Colonic Mucosa	Colon
49	chr1:228582200-228591000	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr1:228582200-228591200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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