Variant report

Variant	rs9726778
Chromosome Location	chr1:197116754-197116755
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197112577..197117711-chr1:197168565..197172597,7	K562	blood:
2	chr1:197112577..197117470-chr1:197168821..197172597,7	K562	blood:
3	chr1:197115985..197117514-chr1:197120837..197122642,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177888	Chromatin interaction
ENSG00000134376	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1034162	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10429911	0.84[AMR][1000 genomes]
rs10732296	0.81[AMR][1000 genomes]
rs10733087	0.83[EUR][1000 genomes]
rs10737687	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10754213	0.83[EUR][1000 genomes]
rs10754214	0.83[EUR][1000 genomes]
rs10754215	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10801587	0.83[EUR][1000 genomes]
rs10801588	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10801590	0.83[EUR][1000 genomes]
rs10801591	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10801593	0.81[AMR][1000 genomes]
rs10801594	0.81[AMR][1000 genomes]
rs10922165	0.82[EUR][1000 genomes]
rs10922166	0.83[EUR][1000 genomes]
rs10922169	0.90[EUR][1000 genomes]
rs1115247	0.83[EUR][1000 genomes]
rs12677	0.83[EUR][1000 genomes]
rs1332662	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1332663	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1412631	0.83[EUR][1000 genomes]
rs1412632	0.83[EUR][1000 genomes]
rs1412633	0.83[EUR][1000 genomes]
rs1412634	0.83[EUR][1000 genomes]
rs1415217	0.84[AMR][1000 genomes]
rs1537319	0.83[EUR][1000 genomes]
rs1556763	0.81[AMR][1000 genomes]
rs1571964	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1627765	0.83[EUR][1000 genomes]
rs1759006	0.83[EUR][1000 genomes]
rs1759007	0.83[EUR][1000 genomes]
rs1759008	0.83[EUR][1000 genomes]
rs1759009	0.83[EUR][1000 genomes]
rs1759013	0.83[EUR][1000 genomes]
rs1794003	0.83[EUR][1000 genomes]
rs1794010	0.83[EUR][1000 genomes]
rs1888991	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1953064	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2026429	0.83[EUR][1000 genomes]
rs2151133	0.83[EUR][1000 genomes]
rs2151134	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2151135	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3891964	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4342879	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4350226	0.90[EUR][1000 genomes]
rs4556392	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4915148	0.83[EUR][1000 genomes]
rs4915156	0.83[EUR][1000 genomes]
rs4915313	0.83[EUR][1000 genomes]
rs4915315	0.83[EUR][1000 genomes]
rs4915316	0.83[EUR][1000 genomes]
rs4915327	0.83[EUR][1000 genomes]
rs4915337	0.83[EUR][1000 genomes]
rs4915345	0.90[EUR][1000 genomes]
rs5997	0.83[EUR][1000 genomes]
rs6003	0.83[EUR][1000 genomes]
rs6428387	0.83[EUR][1000 genomes]
rs6656858	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6671696	0.83[EUR][1000 genomes]
rs6677082	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6679189	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6680497	0.83[EUR][1000 genomes]
rs6685259	0.83[EUR][1000 genomes]
rs6695300	0.90[EUR][1000 genomes]
rs6703400	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7411719	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7516700	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7520503	0.81[AMR][1000 genomes]
rs7534353	0.93[EUR][1000 genomes]
rs7539642	0.83[EUR][1000 genomes]
rs7541429	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7542397	0.93[EUR][1000 genomes]
rs7554802	0.84[AMR][1000 genomes]
rs7554890	0.81[AMR][1000 genomes]
rs877897	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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 target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv548871	chr1:197106604-197168233	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197113400-197117000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:197116200-197116800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr1:197116200-197117000	Flanking Active TSS	Dnd41	blood
4	chr1:197116400-197116800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:197116400-197116800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr1:197116400-197116800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:197116400-197116800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:197116400-197116800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:197116400-197118200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:197116400-197118400	Weak transcription	NHDF-Ad	bronchial
11	chr1:197116400-197119400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:197116400-197119600	Weak transcription	Liver	Liver
13	chr1:197116400-197119800	Weak transcription	Fetal Intestine Small	intestine
14	chr1:197116400-197120600	Weak transcription	Fetal Intestine Large	intestine
15	chr1:197116400-197123400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:197116400-197126800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr1:197116400-197126800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:197116400-197127000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:197116400-197127400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:197116400-197127400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:197116400-197127400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:197116400-197127600	Weak transcription	Brain Germinal Matrix	brain
23	chr1:197116400-197127600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:197116400-197127600	Weak transcription	HSMM	muscle
25	chr1:197116400-197127800	Weak transcription	Fetal Lung	lung
26	chr1:197116400-197127800	Weak transcription	NH-A	brain
27	chr1:197116400-197128000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:197116400-197128200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:197116400-197128200	Weak transcription	Brain Angular Gyrus	brain
30	chr1:197116400-197128400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:197116400-197128400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:197116400-197128400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:197116400-197128400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:197116400-197128400	Weak transcription	Brain Anterior Caudate	brain
35	chr1:197116400-197128400	Weak transcription	Fetal Thymus	thymus
36	chr1:197116400-197128400	Weak transcription	A549	lung
37	chr1:197116400-197128600	Weak transcription	Left Ventricle	heart
38	chr1:197116400-197132000	Weak transcription	HSMMtube	muscle
39	chr1:197116400-197134800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:197116400-197138800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:197116400-197142200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:197116400-197142200	Weak transcription	HUVEC	blood vessel
43	chr1:197116400-197142400	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:197116400-197142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:197116400-197142600	Weak transcription	Fetal Brain Female	brain
46	chr1:197116400-197146200	Weak transcription	Gastric	stomach
47	chr1:197116400-197155000	Weak transcription	Fetal Brain Male	brain
48	chr1:197116600-197116800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr1:197116600-197116800	Flanking Active TSS	Hela-S3	cervix
50	chr1:197116600-197116800	Enhancers	HepG2	liver

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