Variant report

Variant	rs12034342
Chromosome Location	chr1:225957206-225957207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225938850..225941091-chr1:225955099..225957514,2	K562	blood:
2	chr1:225834091..225845547-chr1:225952149..225961130,23	MCF-7	breast:
3	chr1:225956937..225960087-chr1:225960479..225963654,4	K562	blood:
4	chr1:225955657..225958331-chr1:225968298..225970381,2	K562	blood:
5	chr1:225957183..225958827-chr1:225960049..225962643,2	MCF-7	breast:
6	chr1:225952293..225956105-chr1:225956557..225960824,5	MCF-7	breast:
7	chr1:225956010..225958854-chr1:225963164..225966900,6	MCF-7	breast:
8	chr1:225945507..225952186-chr1:225952608..225958481,10	MCF-7	breast:
9	chr1:225832104..225833710-chr1:225956622..225959260,2	MCF-7	breast:
10	chr1:225838129..225843793-chr1:225950745..225961465,25	MCF-7	breast:
11	chr1:225956759..225958408-chr1:225964562..225966540,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction
ENSG00000143742	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10915869	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10915871	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10915872	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10915874	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10915875	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12021669	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12021809	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12023203	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12025075	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12025085	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12025267	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12026657	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12029847	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12031637	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12032511	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12038476	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12039184	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12042000	0.81[EUR][1000 genomes]
rs12042778	0.81[EUR][1000 genomes]
rs12047520	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12048908	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12562612	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1849685	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2078389	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3738035	1.00[AFR][1000 genomes]
rs3753650	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4557929	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61849043	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61849046	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61849047	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61851667	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs716966	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][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	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225946200-225959800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:225949600-225960400	Enhancers	Fetal Muscle Leg	muscle
3	chr1:225950600-225958200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:225952200-225960200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:225952200-225964400	Weak transcription	Fetal Brain Female	brain
6	chr1:225952200-225965600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:225953600-225957600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:225953600-225957800	Enhancers	Placenta	Placenta
9	chr1:225953600-225957800	Enhancers	Fetal Thymus	thymus
10	chr1:225953600-225958400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:225953600-225960000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:225953600-225960200	Enhancers	Spleen	Spleen
13	chr1:225953800-225960200	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:225954000-225957400	Flanking Active TSS	HepG2	liver
15	chr1:225954000-225957400	Enhancers	HMEC	breast
16	chr1:225954000-225957600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:225954000-225960000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:225954200-225957600	Enhancers	K562	blood
19	chr1:225954200-225957800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:225954200-225958000	Enhancers	Fetal Kidney	kidney
21	chr1:225954200-225961000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:225954400-225957600	Enhancers	Pancreas	Pancrea
23	chr1:225954400-225958200	Enhancers	Brain Cingulate Gyrus	brain
24	chr1:225954400-225960800	Enhancers	Fetal Stomach	stomach
25	chr1:225954400-225960800	Enhancers	Ovary	ovary
26	chr1:225954600-225957400	Enhancers	Fetal Heart	heart
27	chr1:225954600-225957600	Enhancers	A549	lung
28	chr1:225954800-225964400	Weak transcription	Small Intestine	intestine
29	chr1:225955000-225957600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:225955200-225957400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:225955200-225957600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:225955200-225960400	Enhancers	NHDF-Ad	bronchial
33	chr1:225955400-225960800	Enhancers	NHLF	lung
34	chr1:225955600-225957600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:225955600-225958200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:225955600-225958800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:225955800-225958200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:225955800-225959800	Enhancers	Stomach Smooth Muscle	stomach
39	chr1:225955800-225960000	Enhancers	Fetal Lung	lung
40	chr1:225956000-225957400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:225956000-225957400	Weak transcription	Brain Substantia Nigra	brain
42	chr1:225956000-225958200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:225956000-225958200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:225956000-225958200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:225956000-225958200	Weak transcription	Brain Angular Gyrus	brain
46	chr1:225956000-225958200	Weak transcription	Brain Anterior Caudate	brain
47	chr1:225956000-225958400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:225956000-225958600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:225956000-225959600	Weak transcription	Fetal Intestine Small	intestine
50	chr1:225956000-225959600	Weak transcription	Rectal Mucosa Donor 29	rectum

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