Variant report

Variant	rs2015842
Chromosome Location	chr7:40133563-40133564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40132356..40134649-chr7:40137450..40139023,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10156182	0.93[ASN][1000 genomes]
rs10233552	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10234693	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10246466	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1024680	0.92[ASN][1000 genomes]
rs10252631	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10254394	0.94[ASN][1000 genomes]
rs10261984	0.82[EUR][1000 genomes]
rs10268288	0.85[ASN][1000 genomes]
rs10272641	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10275761	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10951623	1.00[EUR][1000 genomes]
rs10951624	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10951625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11972983	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11977756	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[EUR][1000 genomes]
rs11980745	0.88[ASN][1000 genomes]
rs11983287	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12334141	0.85[ASN][1000 genomes]
rs12530835	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12531761	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12531774	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12532714	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes]
rs12533272	0.92[ASN][1000 genomes]
rs12534103	0.97[EUR][1000 genomes]
rs12535281	0.87[EUR][1000 genomes]
rs12536190	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12536349	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12536726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12537125	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12537320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12539956	0.97[EUR][1000 genomes]
rs1257698	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12666454	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12669872	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12672040	0.97[EUR][1000 genomes]
rs12672136	1.00[EUR][1000 genomes]
rs12672142	1.00[EUR][1000 genomes]
rs13438258	0.87[EUR][1000 genomes]
rs13438262	0.87[EUR][1000 genomes]
rs13438324	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1403381	0.88[ASN][1000 genomes]
rs1568645	0.84[ASN][1000 genomes]
rs17171637	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[EUR][1000 genomes]
rs17171645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17171646	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17171658	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17496429	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17496670	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17496733	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17537767	1.00[EUR][1000 genomes]
rs17538125	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2052097	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2077124	0.97[ASN][1000 genomes]
rs2109339	0.96[ASN][1000 genomes]
rs2159488	0.83[ASN][1000 genomes]
rs2159489	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2302341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2329615	0.87[EUR][1000 genomes]
rs2329693	0.93[ASN][1000 genomes]
rs28627647	0.84[EUR][1000 genomes]
rs28879668	0.87[EUR][1000 genomes]
rs33999222	0.90[ASN][1000 genomes]
rs3735135	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs3800799	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3800802	0.86[ASN][1000 genomes]
rs3801238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3847019	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3847020	0.95[ASN][1000 genomes]
rs3847021	0.89[ASN][1000 genomes]
rs3911836	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3911889	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];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4344004	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[EUR][1000 genomes]
rs4720344	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4720347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4720348	0.94[ASN][1000 genomes]
rs4720349	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4720352	0.84[ASN][1000 genomes]
rs4723923	1.00[EUR][1000 genomes]
rs4723925	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4723927	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4723928	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4723929	0.87[ASN][1000 genomes]
rs60315659	1.00[EUR][1000 genomes]
rs6952597	0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs6960111	0.92[ASN][1000 genomes]
rs6961040	0.87[EUR][1000 genomes]
rs6963973	0.87[EUR][1000 genomes]
rs6966917	0.88[ASN][1000 genomes]
rs6967332	0.87[EUR][1000 genomes]
rs6970469	0.84[EUR][1000 genomes]
rs6975853	0.89[ASN][1000 genomes]
rs731847	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs731848	0.88[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs73394665	0.90[ASN][1000 genomes]
rs758696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs773393	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs773397	0.85[ASN][1000 genomes]
rs773402	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs773410	0.81[ASN][1000 genomes]
rs773411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs773413	0.88[ASN][1000 genomes]
rs7779663	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7797041	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7799846	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs940272	0.89[EUR][1000 genomes]
rs9639818	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429748	chr7:40054760-40140660	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv887979	chr7:40067021-40193535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887980	chr7:40067021-40203356	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv887981	chr7:40075461-40203356	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv971193	chr7:40075881-40197955	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	esv34547	chr7:40077032-40230965	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv824080	chr7:40077089-40198644	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv464437	chr7:40094641-40197168	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv606709	chr7:40094641-40197168	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv887982	chr7:40098787-40193535	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40116400-40136000	Weak transcription	Fetal Brain Male	brain
2	chr7:40117600-40138000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:40118600-40136600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr7:40119800-40135600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:40122400-40135800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:40122800-40137600	Strong transcription	Dnd41	blood
7	chr7:40124000-40134400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:40124000-40135000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:40124000-40137600	Strong transcription	Duodenum Mucosa	Duodenum
10	chr7:40124000-40137800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:40124000-40138400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr7:40124400-40136000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr7:40124400-40136400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:40124400-40137800	Strong transcription	Primary T cells from cord blood	blood
15	chr7:40124800-40134800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:40125000-40133600	Strong transcription	Adipose Nuclei	Adipose
17	chr7:40125000-40137600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:40125200-40135800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:40125800-40135800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:40125800-40136000	Strong transcription	Fetal Thymus	thymus
21	chr7:40125800-40136200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:40125800-40137600	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr7:40125800-40137800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:40126000-40142400	Weak transcription	Fetal Heart	heart
25	chr7:40126400-40133800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:40126400-40134200	Strong transcription	Fetal Intestine Large	intestine
27	chr7:40126600-40135200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:40126600-40136400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:40126600-40137200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:40126800-40135600	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:40127400-40135000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:40127400-40135000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:40127400-40135600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:40127400-40136600	Strong transcription	Primary B cells from cord blood	blood
35	chr7:40127400-40137600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:40127600-40135200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:40127600-40136000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:40127600-40136400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr7:40127800-40134600	Strong transcription	Left Ventricle	heart
40	chr7:40127800-40135400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:40127800-40135800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr7:40127800-40136600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:40128800-40133800	Weak transcription	Colonic Mucosa	Colon
44	chr7:40128800-40133800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:40129400-40133600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr7:40129800-40133800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr7:40130400-40134800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:40130800-40135000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:40130800-40137000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:40131000-40135600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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