Variant report

Variant	rs12510436
Chromosome Location	chr4:158916502-158916503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:158914380..158920879-chr4:159079921..159084466,8	MCF-7	breast:
2	chr4:158912571..158916849-chr4:159013907..159018478,8	MCF-7	breast:
3	chr4:158914972..158917368-chr4:158985626..158987594,2	MCF-7	breast:
4	chr4:158912006..158922011-chr4:159085009..159099282,46	MCF-7	breast:
5	chr4:158908850..158922778-chr4:159084957..159098830,43	MCF-7	breast:
6	chr4:158913650..158917854-chr4:159079985..159084707,6	MCF-7	breast:
7	chr4:158915917..158916822-chr4:159091876..159092626,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248429	Chromatin interaction
ENSG00000164125	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10517684	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857307	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857308	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11100145	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12498860	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501025	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504989	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505752	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12505934	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511544	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511578	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511957	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12512064	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643255	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12644342	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12650454	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1375138	0.84[EUR][1000 genomes]
rs17036918	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036921	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839129	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1839130	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2594763	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2594769	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35146306	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35354204	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3934848	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4129400	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4132016	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132443	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4307005	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4460050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4629502	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637451	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4691449	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57156989	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58762368	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62335304	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335305	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335306	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335307	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335308	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335310	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335311	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335313	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335314	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335316	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335317	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335339	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62335341	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62335345	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62335346	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62335358	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62335359	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62336960	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62336961	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62336984	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6815131	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6827475	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72965897	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72967808	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72967836	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs964237	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs982239	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv881288	chr4:158891733-159028080	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158913600-158916600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:158913600-158917800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:158913800-158917200	Weak transcription	Fetal Stomach	stomach
4	chr4:158913800-158917400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:158913800-158917400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:158913800-158917400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:158913800-158917400	Weak transcription	NH-A	brain
8	chr4:158913800-158918800	Enhancers	Fetal Intestine Small	intestine
9	chr4:158913800-158928200	Weak transcription	HSMM	muscle
10	chr4:158913800-158930000	Weak transcription	Right Atrium	heart
11	chr4:158914400-158917400	Weak transcription	Fetal Kidney	kidney
12	chr4:158914400-158923400	Weak transcription	Fetal Heart	heart
13	chr4:158914600-158917200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:158915000-158917200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:158915000-158924000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:158915200-158916600	Enhancers	Ovary	ovary
17	chr4:158915600-158917400	Weak transcription	Pancreas	Pancrea
18	chr4:158915800-158916800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:158915800-158918800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:158916000-158916600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:158916200-158916600	Enhancers	Small Intestine	intestine
22	chr4:158916200-158916800	Enhancers	A549	lung
23	chr4:158916400-158917400	Weak transcription	Fetal Intestine Large	intestine
24	chr4:158916400-158917400	Weak transcription	Fetal Lung	lung
25	chr4:158916400-158918600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr4:158916400-158918800	Enhancers	HUVEC	blood vessel
27	chr4:158916400-158921400	Enhancers	HepG2	liver
28	chr4:158916400-158923000	Weak transcription	Monocytes-CD14+_RO01746	blood

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