Variant report

Variant	rs4971106
Chromosome Location	chr1:155834259-155834260
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155828307..155831270-chr1:155832837..155834825,2	K562	blood:
2	chr1:155829582..155831880-chr1:155833605..155835699,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132718	Chromatin interaction
ENSG00000116580	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1094462	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs11803678	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs13374129	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13376121	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376235	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1624846	0.80[EUR][1000 genomes]
rs16837037	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16837063	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17370773	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1749415	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1749421	0.80[EUR][1000 genomes]
rs2363012	1.00[EUR][1000 genomes]
rs2477541	0.80[EUR][1000 genomes]
rs2686255	0.80[EUR][1000 genomes]
rs28574887	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35044707	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs41264969	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4612618	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4933	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4971065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs552778	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs56758819	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59706606	0.80[EUR][1000 genomes]
rs59791187	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs598176	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs621181	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs682020	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs73001021	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7525057	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7530726	1.00[EUR][1000 genomes]
rs7535158	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs822016	0.80[EUR][1000 genomes]
rs822018	0.80[EUR][1000 genomes]
rs822019	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs822020	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs822022	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs822482	1.00[EUR][1000 genomes]
rs822495	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs822497	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs822499	1.00[EUR][1000 genomes]
rs822500	0.97[EUR][1000 genomes]
rs822523	1.00[EUR][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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155829600-155841000	Weak transcription	Pancreas	Pancrea
2	chr1:155830000-155869000	Weak transcription	Gastric	stomach
3	chr1:155830200-155841000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:155830400-155840600	Weak transcription	Spleen	Spleen
5	chr1:155830400-155841200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:155830400-155843800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:155830400-155843800	Weak transcription	Lung	lung
8	chr1:155830400-155865800	Weak transcription	Esophagus	oesophagus
9	chr1:155830600-155838400	Weak transcription	Ovary	ovary
10	chr1:155830600-155841000	Weak transcription	Left Ventricle	heart
11	chr1:155830600-155850200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:155830600-155866800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:155830800-155837800	Weak transcription	Right Ventricle	heart
14	chr1:155830800-155838000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:155830800-155838000	Weak transcription	Aorta	Aorta
16	chr1:155830800-155838000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:155830800-155838200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:155830800-155839000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:155830800-155839400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:155830800-155839600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:155830800-155850400	Weak transcription	Adipose Nuclei	Adipose
22	chr1:155830800-155852000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:155831000-155837200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:155831000-155838000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:155831000-155838400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr1:155831000-155838400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:155831000-155840000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:155831000-155840800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:155831000-155848800	Weak transcription	Fetal Intestine Large	intestine
30	chr1:155831000-155849200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:155831000-155850000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:155831000-155851000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:155831000-155862600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:155831000-155862800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:155831000-155863000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:155831200-155837200	Weak transcription	Fetal Stomach	stomach
37	chr1:155831200-155837400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:155831200-155837400	Weak transcription	NHLF	lung
39	chr1:155831200-155837800	Weak transcription	Osteobl	bone
40	chr1:155831200-155838000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:155831200-155841200	Weak transcription	NHDF-Ad	bronchial
42	chr1:155831200-155862800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:155831400-155840400	Weak transcription	Fetal Heart	heart
44	chr1:155831400-155859000	Weak transcription	HUVEC	blood vessel
45	chr1:155831600-155838000	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:155832000-155838000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:155832200-155838400	Weak transcription	GM12878-XiMat	blood
48	chr1:155832400-155834400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
49	chr1:155832600-155836200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:155832600-155841200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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