Variant report

Variant	rs34341173
Chromosome Location	chr1:114348942-114348943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114299841..114303516-chr1:114345652..114349998,8	MCF-7	breast:
2	chr1:114332999..114335682-chr1:114345986..114348976,2	K562	blood:
3	chr1:114346964..114349698-chr1:114471550..114473214,2	MCF-7	breast:
4	chr1:114300208..114303204-chr1:114345927..114349576,6	K562	blood:

Variant related genes	Relation type
ENSG00000235527	Chromatin interaction
ENSG00000163349	Chromatin interaction
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];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10489936	0.87[EUR][1000 genomes]
rs1080307	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1217384	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12723023	0.83[EUR][1000 genomes]
rs12729708	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12730735	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12731010	0.85[EUR][1000 genomes]
rs12734625	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12735104	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12739970	0.83[EUR][1000 genomes]
rs12746609	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12748727	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12752932	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12753075	0.84[EUR][1000 genomes]
rs12753351	0.88[EUR][1000 genomes]
rs12758546	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12760457	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13374352	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17274550	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17274620	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17274634	0.89[EUR][1000 genomes]
rs17359302	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17462614	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17509390	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1885454	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2040040	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2359173	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2359174	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34042871	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];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34698891	0.90[EUR][1000 genomes]
rs34857922	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34877889	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35320278	0.89[EUR][1000 genomes]
rs35383900	0.88[EUR][1000 genomes]
rs35836713	0.89[EUR][1000 genomes]
rs36115604	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3747998	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3748003	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3761931	0.87[EUR][1000 genomes]
rs3789595	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3789599	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3789607	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3789609	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61817579	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61817586	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61817617	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61819423	0.84[EUR][1000 genomes]
rs61819424	0.82[EUR][1000 genomes]
rs61820162	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6668829	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6674848	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6703387	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7533391	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7533605	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7549685	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7555354	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9803891	0.85[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:113 , 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	chr1:114319800-114352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:114320000-114354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:114327400-114351200	Weak transcription	Fetal Brain Male	brain
6	chr1:114329200-114353600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:114332400-114353400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:114336000-114351200	Weak transcription	Fetal Brain Female	brain
9	chr1:114336200-114351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:114336200-114351200	Weak transcription	HMEC	breast
11	chr1:114336800-114349400	Weak transcription	Lung	lung
12	chr1:114337200-114352600	Weak transcription	Fetal Kidney	kidney
13	chr1:114340000-114351800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:114340400-114352800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:114340600-114349400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:114340600-114351400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:114340600-114351400	Weak transcription	Aorta	Aorta
18	chr1:114340600-114351800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:114340600-114351800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:114340600-114351800	Weak transcription	Thymus	Thymus
21	chr1:114340600-114353400	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:114340800-114349400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:114340800-114352600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:114340800-114352800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:114341600-114351200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr1:114342000-114350600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:114342000-114351000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:114342000-114352600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:114342200-114351800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:114344000-114351200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:114344400-114351800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:114345800-114351800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:114346200-114351400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:114346800-114349200	Enhancers	HepG2	liver
35	chr1:114346800-114349400	Weak transcription	Left Ventricle	heart
36	chr1:114346800-114349400	Weak transcription	Pancreas	Pancrea
37	chr1:114346800-114352400	Weak transcription	Colonic Mucosa	Colon
38	chr1:114347000-114350000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr1:114347000-114350600	Weak transcription	Brain Anterior Caudate	brain
40	chr1:114347000-114352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:114347200-114352000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:114347200-114352000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:114347200-114352400	Weak transcription	Ovary	ovary
44	chr1:114347400-114349200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr1:114347400-114350600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:114347400-114351200	Weak transcription	Brain Angular Gyrus	brain
47	chr1:114347400-114351200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:114347400-114351200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:114347400-114351400	Weak transcription	Brain Substantia Nigra	brain
50	chr1:114347400-114351800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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