Variant report

Variant	rs34042871
Chromosome Location	chr1:114335092-114335093
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114301004..114303361-chr1:114333727..114335716,2	MCF-7	breast:
2	chr1:114332261..114335677-chr1:114340949..114344053,3	K562	blood:
3	chr1:114329880..114331707-chr1:114332071..114335621,3	K562	blood:
4	chr1:114332999..114335682-chr1:114345986..114348976,2	K562	blood:
5	chr1:114334277..114335869-chr20:50684813..50686450,2	MCF-7	breast:
6	chr1:114333134..114336494-chr1:114338300..114342659,7	MCF-7	breast:
7	chr1:114300794..114303535-chr1:114333161..114335881,2	MCF-7	breast:
8	chr1:114323968..114327770-chr1:114333801..114338657,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116793	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10127930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489936	0.88[EUR][1000 genomes]
rs1080307	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1217384	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12723023	0.84[EUR][1000 genomes]
rs12729708	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12730735	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12731010	0.86[EUR][1000 genomes]
rs12734625	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12735104	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12739970	0.84[EUR][1000 genomes]
rs12746609	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12748727	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12752932	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12753075	0.85[EUR][1000 genomes]
rs12753351	0.89[EUR][1000 genomes]
rs12758546	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12760457	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13374352	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17274550	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17274620	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17274634	0.89[EUR][1000 genomes]
rs17359302	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17462614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1885454	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2040040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359173	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2359174	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34341173	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34649199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34698891	0.90[EUR][1000 genomes]
rs34857922	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34877889	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35320278	0.89[EUR][1000 genomes]
rs35383900	0.89[EUR][1000 genomes]
rs35836713	0.89[EUR][1000 genomes]
rs36115604	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3747998	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3748003	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3761931	0.88[EUR][1000 genomes]
rs3789595	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3789599	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3789607	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3789609	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61817579	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61817586	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61817617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61819423	0.85[EUR][1000 genomes]
rs61819424	0.82[EUR][1000 genomes]
rs61820162	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6668829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674848	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6703387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7533391	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7533605	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7549685	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7555354	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9803891	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114303400-114353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114309600-114353400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:114311000-114335600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:114311000-114336800	Weak transcription	Fetal Kidney	kidney
5	chr1:114311000-114341800	Weak transcription	Esophagus	oesophagus
6	chr1:114319800-114352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:114320000-114336200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:114320000-114340000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:114320000-114354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:114320200-114337200	Weak transcription	Placenta	Placenta
11	chr1:114320400-114337200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:114326600-114335200	Weak transcription	HMEC	breast
13	chr1:114326600-114337800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:114326800-114335200	Weak transcription	HUVEC	blood vessel
15	chr1:114326800-114335800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:114326800-114335800	Weak transcription	NH-A	brain
17	chr1:114326800-114338600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:114326800-114340000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:114327000-114335200	Weak transcription	NHDF-Ad	bronchial
20	chr1:114327000-114336000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:114327000-114337000	Weak transcription	Brain Germinal Matrix	brain
22	chr1:114327200-114337400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:114327400-114335200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:114327400-114335400	Weak transcription	Fetal Brain Female	brain
25	chr1:114327400-114335600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:114327400-114336400	Weak transcription	Thymus	Thymus
27	chr1:114327400-114336600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:114327400-114336800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:114327400-114337600	Weak transcription	Adipose Nuclei	Adipose
30	chr1:114327400-114337600	Weak transcription	Fetal Lung	lung
31	chr1:114327400-114339200	Weak transcription	HSMMtube	muscle
32	chr1:114327400-114341600	Weak transcription	Colonic Mucosa	Colon
33	chr1:114327400-114348800	Weak transcription	Spleen	Spleen
34	chr1:114327400-114351200	Weak transcription	Fetal Brain Male	brain
35	chr1:114327600-114335400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:114329200-114335200	Weak transcription	Psoas Muscle	Psoas
37	chr1:114329200-114336000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:114329200-114336600	Weak transcription	Fetal Heart	heart
39	chr1:114329200-114337000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:114329200-114337200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:114329200-114339400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:114329200-114339600	Weak transcription	A549	lung
43	chr1:114329200-114340200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:114329200-114341600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:114329200-114345800	Weak transcription	Small Intestine	intestine
46	chr1:114329200-114353600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:114329400-114335800	Weak transcription	Hela-S3	cervix
48	chr1:114330400-114335800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:114330400-114336600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:114330400-114336800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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