Variant report

Variant	rs10471013
Chromosome Location	chr4:120420247-120420248
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120418959..120421709-chr4:120435895..120438263,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10003953	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10010097	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10012406	1.00[AMR][1000 genomes]
rs10015714	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10015999	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10017842	1.00[AMR][1000 genomes]
rs10021318	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10023384	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10027735	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10028634	1.00[AMR][1000 genomes]
rs10029882	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10031328	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10032392	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10213498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11098519	1.00[AMR][1000 genomes]
rs11098520	1.00[AMR][1000 genomes]
rs17292047	1.00[YRI][hapmap]
rs28380652	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28399227	1.00[AMR][1000 genomes]
rs28405434	1.00[AMR][1000 genomes]
rs28419430	1.00[AMR][1000 genomes]
rs28436005	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28450144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28461667	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28469881	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28470408	1.00[AMR][1000 genomes]
rs28535588	1.00[AMR][1000 genomes]
rs28576329	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28590285	1.00[AMR][1000 genomes]
rs28615474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28622207	1.00[AMR][1000 genomes]
rs28634062	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28639494	1.00[AMR][1000 genomes]
rs28639769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28651206	1.00[AMR][1000 genomes]
rs28654414	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28665114	1.00[AMR][1000 genomes]
rs28669906	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28709577	1.00[AMR][1000 genomes]
rs28736368	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28864814	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28870820	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3872804	1.00[AMR][1000 genomes]
rs55905129	1.00[AMR][1000 genomes]
rs56191916	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57295141	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57516186	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59116083	1.00[AMR][1000 genomes]
rs61729464	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61823285	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72918555	1.00[AMR][1000 genomes]
rs72918590	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72918597	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72920607	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72920619	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72920685	1.00[AMR][1000 genomes]
rs9307478	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9884290	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9884542	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9993996	1.00[AMR][1000 genomes]
rs9996803	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9997423	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9998244	1.00[AMR][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv879843	chr4:120326323-120502461	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv879844	chr4:120341296-120449810	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv879846	chr4:120341296-120491714	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv879845	chr4:120341296-120502461	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv879847	chr4:120371729-120450159	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	esv1802153	chr4:120397829-120457682	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv879848	chr4:120408931-120433807	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120376400-120471600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:120377200-120433800	Weak transcription	Gastric	stomach
3	chr4:120377400-120439000	Weak transcription	Small Intestine	intestine
4	chr4:120377400-120439000	Weak transcription	Spleen	Spleen
5	chr4:120377600-120441000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
7	chr4:120384400-120439200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:120397800-120442600	Weak transcription	Hela-S3	cervix
9	chr4:120399200-120431200	Weak transcription	Fetal Heart	heart
10	chr4:120401600-120433800	Weak transcription	Right Ventricle	heart
11	chr4:120401800-120433400	Weak transcription	Psoas Muscle	Psoas
12	chr4:120402400-120430400	Weak transcription	Ovary	ovary
13	chr4:120403400-120445800	Weak transcription	A549	lung
14	chr4:120408400-120433800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:120412600-120422200	Strong transcription	Dnd41	blood
16	chr4:120413800-120433800	Weak transcription	Esophagus	oesophagus
17	chr4:120414000-120438200	Strong transcription	Osteobl	bone
18	chr4:120414200-120428800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:120414400-120422600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr4:120414400-120429200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:120414400-120440400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr4:120414800-120421200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:120414800-120423600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:120414800-120424600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr4:120415000-120422000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:120415000-120422200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:120415000-120424000	Strong transcription	Fetal Thymus	thymus
28	chr4:120415000-120425400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:120415200-120420400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr4:120415200-120421600	Strong transcription	Placenta	Placenta
31	chr4:120415200-120422400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:120415200-120423400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:120415200-120423400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr4:120415200-120426800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:120415200-120428800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:120415200-120433600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:120415200-120438800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:120415400-120421000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:120415400-120423200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr4:120415400-120423800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:120415400-120425000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:120415400-120426600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:120415600-120421600	Strong transcription	HUVEC	blood vessel
44	chr4:120415600-120422200	Strong transcription	NHDF-Ad	bronchial
45	chr4:120415600-120424600	Strong transcription	Adipose Nuclei	Adipose
46	chr4:120415600-120425600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr4:120415600-120426800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:120416000-120426200	Strong transcription	NH-A	brain
49	chr4:120416200-120422000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr4:120416200-120425600	Strong transcription	Fetal Intestine Large	intestine

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