Variant report

Variant	rs1049434
Chromosome Location	chr1:113456546-113456547
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113448232..113450362-chr1:113454684..113457292,4	K562	blood:
2	chr1:113448862..113452902-chr1:113455376..113458880,4	K562	blood:
3	chr1:113456052..113457873-chr1:113583219..113586071,2	K562	blood:
4	chr1:113456113..113457928-chr1:113495193..113498658,3	K562	blood:
5	chr1:113453527..113457019-chr1:113457293..113460216,3	K562	blood:

Variant related genes	Relation type
ENSG00000155380	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10158127	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10776763	0.95[ASN][1000 genomes]
rs10857980	0.96[CEU][hapmap];0.93[GIH][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs10857982	0.93[ASN][1000 genomes]
rs10857983	0.94[ASN][1000 genomes]
rs11102562	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11102565	0.93[ASN][1000 genomes]
rs11102568	0.88[ASN][1000 genomes]
rs12028967	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12037621	0.92[ASN][1000 genomes]
rs1216603	0.84[EUR][1000 genomes]
rs1539624	0.96[CEU][hapmap];0.83[GIH][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1629027	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1728218	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs1728219	0.80[EUR][1000 genomes]
rs1728232	0.80[EUR][1000 genomes]
rs1983929	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2096301	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2105388	0.93[EUR][1000 genomes]
rs2996295	0.87[ASW][hapmap]
rs3789592	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs4301628	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4838969	0.87[EUR][1000 genomes]
rs4838970	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4839273	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6537762	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6537764	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6537765	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6663872	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6670224	0.90[CEU][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6681037	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6681552	0.93[EUR][1000 genomes]
rs7169	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773430	0.82[EUR][1000 genomes]
rs773432	0.82[EUR][1000 genomes]
rs773433	0.82[EUR][1000 genomes]
rs773434	0.81[EUR][1000 genomes]
rs773435	0.82[EUR][1000 genomes]
rs773436	0.81[EUR][1000 genomes]
rs773439	0.80[EUR][1000 genomes]
rs773442	0.84[EUR][1000 genomes]
rs9633370	0.96[CEU][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
11	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
12	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer 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	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113439200-113459200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:113439200-113460400	Weak transcription	Aorta	Aorta
3	chr1:113440400-113459600	Weak transcription	Primary T cells from cord blood	blood
4	chr1:113444400-113456600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:113446000-113456600	Weak transcription	Fetal Heart	heart
6	chr1:113446400-113457800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:113446600-113459600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:113446800-113459800	Weak transcription	Psoas Muscle	Psoas
9	chr1:113447400-113459200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:113447400-113459600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:113447800-113457800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:113447800-113458000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:113447800-113459600	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:113447800-113470200	Weak transcription	Fetal Kidney	kidney
15	chr1:113448200-113457800	Weak transcription	Ovary	ovary
16	chr1:113448400-113457800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:113448600-113457600	Weak transcription	NHDF-Ad	bronchial
18	chr1:113448800-113458600	Weak transcription	Fetal Stomach	stomach
19	chr1:113448800-113459400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:113449000-113456600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:113449000-113457800	Weak transcription	Left Ventricle	heart
22	chr1:113449000-113457800	Weak transcription	Right Ventricle	heart
23	chr1:113449000-113457800	Weak transcription	NHLF	lung
24	chr1:113449000-113458000	Weak transcription	Primary B cells from cord blood	blood
25	chr1:113449000-113458000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:113449000-113458000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:113449000-113460400	Weak transcription	Fetal Lung	lung
28	chr1:113449000-113465600	Weak transcription	Placenta	Placenta
29	chr1:113449000-113466000	Weak transcription	Esophagus	oesophagus
30	chr1:113449000-113468400	Weak transcription	Lung	lung
31	chr1:113449200-113457800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:113449200-113458000	Weak transcription	NH-A	brain
33	chr1:113449200-113458200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:113449600-113457600	Weak transcription	Osteobl	bone
35	chr1:113449600-113459600	Weak transcription	Adipose Nuclei	Adipose
36	chr1:113449600-113459600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:113449600-113459800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:113449600-113459800	Weak transcription	Brain Germinal Matrix	brain
39	chr1:113449600-113459800	Weak transcription	Colonic Mucosa	Colon
40	chr1:113449600-113459800	Weak transcription	Fetal Intestine Large	intestine
41	chr1:113449600-113470000	Weak transcription	Brain Angular Gyrus	brain
42	chr1:113449600-113474600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:113449600-113477200	Weak transcription	Stomach Mucosa	stomach
44	chr1:113449800-113459200	Weak transcription	Fetal Intestine Small	intestine
45	chr1:113449800-113466000	Weak transcription	Brain Anterior Caudate	brain
46	chr1:113450000-113459600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:113450200-113458000	Strong transcription	HSMM	muscle
48	chr1:113450400-113458000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:113450400-113458400	Weak transcription	HSMMtube	muscle
50	chr1:113450400-113459400	Weak transcription	Brain Hippocampus Middle	brain

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