Variant report

Variant	rs17583707
Chromosome Location	chr1:151919584-151919585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151911549..151914753-chr1:151917047..151920046,3	K562	blood:
2	chr1:151918412..151920135-chr1:151920921..151922803,2	K562	blood:
3	chr1:151919533..151922319-chr1:151932817..151935606,2	MCF-7	breast:
4	chr1:151914726..151916924-chr1:151917247..151919609,3	MCF-7	breast:
5	chr1:151915835..151920651-chr1:152004121..152010886,7	MCF-7	breast:
6	chr1:151918309..151920987-chr1:151938809..151942058,3	MCF-7	breast:
7	chr1:151912762..151919992-chr1:151963219..151969467,12	MCF-7	breast:

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

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1003107	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs10158030	1.00[CHB][hapmap]
rs1038746	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1038748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1048910	0.85[ASN][1000 genomes]
rs10788813	1.00[CHB][hapmap]
rs10788814	0.85[ASN][1000 genomes]
rs10788816	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs10888449	0.85[ASN][1000 genomes]
rs10888453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11204911	1.00[CHB][hapmap]
rs11204912	1.00[CHB][hapmap]
rs11204923	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs12723616	1.00[CHB][hapmap]
rs1387834	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1387835	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1473493	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1473494	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1473495	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1490187	1.00[CHB][hapmap]
rs1490190	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1490191	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]
rs1496037	1.00[CHB][hapmap]
rs1532132	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1552605	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1552606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1552607	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1602245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1602246	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1602248	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1826170	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1826171	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1826172	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1844542	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1873310	1.00[CHB][hapmap]
rs1873311	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1873312	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1967085	1.00[CHB][hapmap]
rs2054948	0.85[ASN][1000 genomes]
rs2087550	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2130526	0.85[ASN][1000 genomes]
rs2338018	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2338204	0.89[ASN][1000 genomes]
rs2338210	0.91[AMR][1000 genomes]
rs2932563	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2932564	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2932567	1.00[CHB][hapmap]
rs2932578	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2932584	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2932585	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2932588	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2932591	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2932592	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2932595	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2932596	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2932597	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999509	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999511	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999515	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999518	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999519	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999520	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999522	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999523	0.82[AMR][1000 genomes]
rs2999524	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999525	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999527	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999529	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2999530	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2999535	1.00[CHB][hapmap]
rs2999536	1.00[CHB][hapmap]
rs2999537	1.00[CHB][hapmap]
rs2999538	1.00[CHB][hapmap]
rs2999551	1.00[CHB][hapmap]
rs2999552	1.00[CHB][hapmap]
rs2999555	1.00[CHB][hapmap]
rs2999558	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes]
rs3001979	1.00[CHB][hapmap]
rs3007672	1.00[CHB][hapmap]
rs3007676	1.00[CHB][hapmap]
rs3007679	1.00[CHB][hapmap]
rs3007682	0.88[AMR][1000 genomes]
rs3007690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs3007692	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs3007693	0.83[AMR][1000 genomes]
rs3007699	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3007700	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3007701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3007704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3122300	1.00[CHB][hapmap]
rs3122301	1.00[CHB][hapmap]
rs3134814	1.00[CHB][hapmap]
rs34370890	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3748805	0.85[ASN][1000 genomes]
rs3762427	0.85[ASN][1000 genomes]
rs4845385	1.00[CHB][hapmap]
rs4845388	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs4845393	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs4845660	1.00[CHB][hapmap]
rs4845664	1.00[CHB][hapmap]
rs4845699	0.89[ASN][1000 genomes]
rs61113720	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587626	1.00[CHB][hapmap]
rs6587628	1.00[CHB][hapmap]
rs6587629	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs6587630	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6587641	1.00[CHB][hapmap]
rs6659029	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6662463	0.85[ASN][1000 genomes]
rs6685291	1.00[CHB][hapmap]
rs6690443	0.85[ASN][1000 genomes]
rs6691350	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7529451	1.00[CHB][hapmap]
rs7532721	1.00[CHB][hapmap]
rs902314	1.00[CHB][hapmap]
rs902315	1.00[CHB][hapmap]
rs959945	1.00[CHB][hapmap]
rs971888	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9943225	1.00[CHB][hapmap];0.85[ASN][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	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151913000-151919800	Enhancers	Fetal Intestine Large	intestine
2	chr1:151914000-151922000	Weak transcription	Spleen	Spleen
3	chr1:151915200-151919600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:151916200-151919600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:151916400-151919600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:151916400-151919800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:151916600-151919600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:151916600-151919600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:151916600-151919600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:151916600-151919600	Enhancers	Fetal Muscle Leg	muscle
11	chr1:151916600-151919600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:151916600-151919600	Enhancers	Stomach Mucosa	stomach
13	chr1:151916600-151919800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:151916600-151919800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:151916600-151919800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:151916600-151919800	Enhancers	Fetal Intestine Small	intestine
17	chr1:151916800-151919600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr1:151916800-151919600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr1:151916800-151919800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:151916800-151919800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:151916800-151919800	Enhancers	HSMM	muscle
22	chr1:151916800-151919800	Enhancers	NHLF	lung
23	chr1:151916800-151920600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:151917000-151919600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:151917000-151919600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:151917000-151919600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr1:151917000-151920200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:151917200-151919600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:151917200-151919800	Enhancers	HSMMtube	muscle
30	chr1:151917400-151919600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:151917400-151919600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:151917400-151919600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr1:151917600-151919800	Enhancers	NH-A	brain
34	chr1:151917600-151921800	Weak transcription	Lung	lung
35	chr1:151917600-151921800	Weak transcription	Pancreas	Pancrea
36	chr1:151917800-151919600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:151918000-151920000	Enhancers	Osteobl	bone
38	chr1:151918200-151919600	Flanking Active TSS	NHEK	skin
39	chr1:151918200-151919800	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:151918200-151920400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:151918600-151919600	Weak transcription	Gastric	stomach
42	chr1:151918600-151919600	Flanking Active TSS	Hela-S3	cervix
43	chr1:151918800-151919600	Enhancers	Left Ventricle	heart
44	chr1:151918800-151920000	Enhancers	HUVEC	blood vessel
45	chr1:151918800-151925400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:151919000-151920000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:151919000-151920000	Enhancers	A549	lung
48	chr1:151919000-151920400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:151919000-151921800	Weak transcription	Ovary	ovary
50	chr1:151919200-151919600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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