Variant report

Variant	rs1490191
Chromosome Location	chr1:151916751-151916752
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151881300..151883232-chr1:151916135..151919010,3	K562	blood:
2	chr1:151915835..151920651-chr1:152004121..152010886,7	MCF-7	breast:
3	chr1:151912468..151914672-chr1:151915878..151918537,2	MCF-7	breast:
4	chr1:151880767..151883017-chr1:151916135..151918351,3	K562	blood:
5	chr1:151902230..151904695-chr1:151916029..151918681,2	K562	blood:
6	chr1:151914726..151916924-chr1:151917247..151919609,3	MCF-7	breast:
7	chr1:151912762..151919992-chr1:151963219..151969467,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197747	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000229021	Chromatin interaction
ENSG00000159445	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1003107	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs10158030	1.00[CHB][hapmap]
rs1038746	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1038748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10788813	1.00[CHB][hapmap]
rs10788816	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10888450	0.91[ASN][1000 genomes]
rs10888451	0.91[ASN][1000 genomes]
rs10888453	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11204911	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[ASN][1000 genomes]
rs11204912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11204923	0.82[CEU][hapmap]
rs12723616	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1352654	0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1387834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1387835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1473493	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1473494	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1473495	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1490187	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs1490190	0.85[AMR][1000 genomes]
rs1496037	1.00[CHB][hapmap]
rs1532132	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1552605	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1552606	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs1552607	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1602245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1602246	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1602248	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17583707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1826170	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1826171	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1826172	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1844542	0.88[AMR][1000 genomes]
rs1873311	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1873312	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs1967085	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs1979638	0.87[CEU][hapmap]
rs2087549	0.81[LWK][hapmap]
rs2087550	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2338018	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2338203	1.00[JPT][hapmap]
rs2338210	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2932563	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2932564	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2932567	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs2932578	0.85[AMR][1000 genomes]
rs2932584	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2932585	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2932588	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2932591	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2932592	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2932595	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2932596	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2932597	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999509	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2999511	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999515	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999518	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999519	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2999520	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999522	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999524	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999525	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999527	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999530	0.88[AMR][1000 genomes]
rs2999535	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap]
rs2999536	1.00[CHB][hapmap]
rs2999537	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap]
rs2999538	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap]
rs2999551	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs2999552	1.00[CHB][hapmap]
rs2999555	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs2999558	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes]
rs3001979	1.00[CHB][hapmap]
rs3007672	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs3007676	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs3007679	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs3007682	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3007690	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs3007692	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3007693	0.86[AMR][1000 genomes]
rs3007699	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3007700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3007701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3007704	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3122300	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs3122301	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs3134814	1.00[CHB][hapmap]
rs34370890	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845385	1.00[CHB][hapmap]
rs4845388	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs4845393	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4845660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4845664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs61113720	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6587626	1.00[CHB][hapmap]
rs6587628	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[ASN][1000 genomes]
rs6587629	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs6587630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6587641	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap]
rs6659029	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[ASN][1000 genomes]
rs6678664	0.94[ASN][1000 genomes]
rs6685291	1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[ASN][1000 genomes]
rs6691350	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs7529451	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[MEX][hapmap]
rs7532721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7544380	0.85[ASN][1000 genomes]
rs7545863	0.85[ASN][1000 genomes]
rs902314	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[ASN][1000 genomes]
rs902315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs902316	0.91[ASN][1000 genomes]
rs959945	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap]
rs971888	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9943225	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]

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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151907000-151917400	Weak transcription	Right Atrium	heart
2	chr1:151907600-151916800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:151908200-151917000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:151909400-151916800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:151909400-151917000	Weak transcription	Colonic Mucosa	Colon
6	chr1:151909600-151917800	Weak transcription	HUVEC	blood vessel
7	chr1:151912000-151917000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:151912200-151917800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:151913000-151917200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:151913000-151919800	Enhancers	Fetal Intestine Large	intestine
11	chr1:151913200-151916800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:151913200-151917800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:151913200-151919000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:151913800-151917000	Enhancers	Adipose Nuclei	Adipose
15	chr1:151914000-151917000	Weak transcription	Esophagus	oesophagus
16	chr1:151914000-151917000	Weak transcription	Psoas Muscle	Psoas
17	chr1:151914000-151917000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:151914000-151917400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:151914000-151922000	Weak transcription	Spleen	Spleen
20	chr1:151914200-151916800	Weak transcription	HSMM	muscle
21	chr1:151914200-151917000	Weak transcription	Pancreas	Pancrea
22	chr1:151914200-151917400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:151914200-151917800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:151914400-151916800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:151914400-151917000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:151914400-151917200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:151914400-151917200	Weak transcription	HSMMtube	muscle
28	chr1:151914600-151916800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:151914600-151917000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:151914600-151917400	Weak transcription	Aorta	Aorta
31	chr1:151914600-151918000	Weak transcription	Osteobl	bone
32	chr1:151914800-151916800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:151914800-151916800	Weak transcription	HMEC	breast
34	chr1:151914800-151916800	Weak transcription	NHEK	skin
35	chr1:151914800-151917000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:151914800-151917000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:151914800-151917000	Weak transcription	Right Ventricle	heart
38	chr1:151914800-151917000	Weak transcription	NH-A	brain
39	chr1:151915000-151917000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:151915200-151917000	Enhancers	A549	lung
41	chr1:151915200-151917800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:151915200-151919600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:151915600-151916800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:151915600-151916800	Weak transcription	NHDF-Ad	bronchial
45	chr1:151915600-151916800	Weak transcription	NHLF	lung
46	chr1:151915600-151917000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:151915600-151918000	Enhancers	Stomach Smooth Muscle	stomach
48	chr1:151915600-151918400	Weak transcription	Ovary	ovary
49	chr1:151915600-151919400	Enhancers	Primary B cells from peripheral blood	blood
50	chr1:151915800-151916800	Weak transcription	Fetal Heart	heart

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