Variant report

Variant	rs12735768
Chromosome Location	chr1:225983943-225983944
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	chr1:225982535..225984252-chr1:225996145..225998557,3	MCF-7	breast:
2	chr1:225982192..225984377-chr1:225987070..225988725,2	K562	blood:

Variant related genes	Relation type
ENSG00000143819	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10799323	0.86[AFR][1000 genomes]
rs10915877	0.80[AFR][1000 genomes]
rs11583073	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11583078	0.81[EUR][1000 genomes]
rs11583940	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11584433	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11589896	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11808973	0.83[AFR][1000 genomes]
rs12031296	0.84[AFR][1000 genomes]
rs12033707	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12033739	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12045518	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12047698	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12757220	0.88[AFR][1000 genomes]
rs12757406	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17571004	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4653679	0.88[AFR][1000 genomes]
rs4653684	0.82[AFR][1000 genomes]
rs4653685	0.82[AFR][1000 genomes]
rs61849057	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6663236	0.82[EUR][1000 genomes]
rs6687036	0.84[AFR][1000 genomes]
rs71646745	0.96[AFR][1000 genomes]
rs71646746	0.96[AFR][1000 genomes]
rs7530073	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 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	chr1:225973800-225986000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:225974600-225985600	Weak transcription	Fetal Heart	heart
3	chr1:225975000-225997200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:225975000-225997400	Weak transcription	Aorta	Aorta
5	chr1:225976000-225984000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:225976200-225984400	Weak transcription	HepG2	liver
7	chr1:225976200-225989000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:225978400-225984400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:225978600-225988200	Weak transcription	NHDF-Ad	bronchial
10	chr1:225978800-225984800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:225978800-225985600	Weak transcription	HMEC	breast
12	chr1:225978800-225989800	Weak transcription	HSMMtube	muscle
13	chr1:225978800-225997200	Weak transcription	K562	blood
14	chr1:225979000-225985800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:225979000-225986800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:225979000-225987400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:225979000-225993200	Weak transcription	HUVEC	blood vessel
18	chr1:225979200-225984200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:225979200-225997200	Weak transcription	Right Ventricle	heart
20	chr1:225979600-225984200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:225979600-225985400	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:225979600-225987600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:225979600-225997200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:225979600-225997400	Weak transcription	Lung	lung
25	chr1:225979600-225997800	Weak transcription	Gastric	stomach
26	chr1:225979800-225985000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:225979800-225985000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:225979800-225985200	Weak transcription	Esophagus	oesophagus
29	chr1:225979800-225988400	Weak transcription	Liver	Liver
30	chr1:225979800-225997200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:225979800-225997200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:225979800-225997200	Weak transcription	A549	lung
33	chr1:225979800-225997400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:225979800-225997600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:225979800-225997600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:225980000-225984600	Weak transcription	NH-A	brain
37	chr1:225980000-225985600	Weak transcription	Spleen	Spleen
38	chr1:225980000-225987400	Weak transcription	Brain Angular Gyrus	brain
39	chr1:225980000-225988600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:225980000-225990800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:225980000-225997200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:225980000-225997200	Weak transcription	Fetal Stomach	stomach
43	chr1:225980000-225997200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:225980000-225997200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:225980000-225997400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:225980000-225997600	Weak transcription	Left Ventricle	heart
47	chr1:225980200-225985200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:225980200-225985400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:225981200-225997200	Weak transcription	Adipose Nuclei	Adipose
50	chr1:225981800-225984000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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