Variant report

Variant	rs17013775
Chromosome Location	chr4:129758710-129758711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129731044..129733877-chr4:129757449..129759486,2	MCF-7	breast:
2	chr4:129739255..129743318-chr4:129756229..129760124,4	K562	blood:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs17013725	1.00[EUR][1000 genomes]
rs17013730	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013733	1.00[EUR][1000 genomes]
rs17013736	1.00[EUR][1000 genomes]
rs17013744	1.00[EUR][1000 genomes]
rs17013759	1.00[EUR][1000 genomes]
rs17013765	1.00[EUR][1000 genomes]
rs17013766	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013768	1.00[ASN][1000 genomes]
rs17013777	1.00[EUR][1000 genomes]
rs17013779	1.00[EUR][1000 genomes]
rs17013786	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013787	1.00[EUR][1000 genomes]
rs17013789	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013807	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013811	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013813	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013815	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013817	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013825	1.00[EUR][1000 genomes]
rs17013827	1.00[EUR][1000 genomes]
rs17013835	1.00[EUR][1000 genomes]
rs17013841	1.00[EUR][1000 genomes]
rs17013844	1.00[EUR][1000 genomes]
rs17013847	1.00[EUR][1000 genomes]
rs17013848	1.00[EUR][1000 genomes]
rs17013849	1.00[EUR][1000 genomes]
rs17013852	1.00[EUR][1000 genomes]
rs17013854	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013857	1.00[EUR][1000 genomes]
rs17013862	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013866	1.00[EUR][1000 genomes]
rs17013872	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013873	1.00[EUR][1000 genomes]
rs17013877	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013882	1.00[EUR][1000 genomes]
rs17013894	1.00[EUR][1000 genomes]
rs17013895	1.00[EUR][1000 genomes]
rs17013898	1.00[EUR][1000 genomes]
rs17013899	1.00[EUR][1000 genomes]
rs17013903	1.00[EUR][1000 genomes]
rs17303098	1.00[EUR][1000 genomes]
rs2004378	1.00[EUR][1000 genomes]
rs28635430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816604	1.00[ASN][1000 genomes]
rs56180223	1.00[ASN][1000 genomes]
rs57153966	1.00[EUR][1000 genomes]
rs57547066	1.00[EUR][1000 genomes]
rs58296567	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58580868	1.00[EUR][1000 genomes]
rs58593491	1.00[EUR][1000 genomes]
rs58728331	1.00[EUR][1000 genomes]
rs58755790	1.00[EUR][1000 genomes]
rs58922070	1.00[EUR][1000 genomes]
rs58981205	1.00[EUR][1000 genomes]
rs59682469	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60787284	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61306978	1.00[EUR][1000 genomes]
rs61620977	1.00[EUR][1000 genomes]
rs61696721	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813405	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827804	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848234	1.00[EUR][1000 genomes]
rs6850940	1.00[EUR][1000 genomes]
rs6855813	1.00[EUR][1000 genomes]
rs73846991	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73850003	1.00[ASN][1000 genomes]
rs73850004	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682356	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129746600-129761800	Strong transcription	Dnd41	blood
2	chr4:129746800-129770200	Weak transcription	HMEC	breast
3	chr4:129747000-129766600	Weak transcription	NHEK	skin
4	chr4:129747400-129761600	Weak transcription	Placenta	Placenta
5	chr4:129748000-129761600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:129752400-129763800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:129752600-129761800	Strong transcription	Fetal Thymus	thymus
8	chr4:129752800-129760600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:129753000-129761000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:129753000-129766200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:129753200-129759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:129753200-129759200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:129753200-129759200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr4:129753200-129763800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:129753200-129767600	Weak transcription	Colonic Mucosa	Colon
16	chr4:129753400-129764000	Weak transcription	Fetal Brain Female	brain
17	chr4:129753400-129766000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:129753400-129767600	Weak transcription	Fetal Brain Male	brain
19	chr4:129753600-129758800	Strong transcription	Osteobl	bone
20	chr4:129753600-129767600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:129753600-129798600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:129753800-129759800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr4:129753800-129770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:129753800-129795000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:129754000-129759400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:129754000-129761600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:129754200-129758800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:129754400-129770600	Weak transcription	Fetal Kidney	kidney
29	chr4:129755000-129763000	Enhancers	Fetal Heart	heart
30	chr4:129755400-129761000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
31	chr4:129755400-129764800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:129755800-129759000	Enhancers	Stomach Mucosa	stomach
33	chr4:129756200-129759400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:129756400-129759000	Genic enhancers	H1 Cell Line	embryonic stem cell
35	chr4:129756400-129759200	Enhancers	Ovary	ovary
36	chr4:129756600-129763800	Weak transcription	Hela-S3	cervix
37	chr4:129756800-129761600	Weak transcription	HUVEC	blood vessel
38	chr4:129756800-129763800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:129756800-129764200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:129757000-129764600	Weak transcription	Brain Angular Gyrus	brain
41	chr4:129757000-129770000	Weak transcription	Small Intestine	intestine
42	chr4:129757200-129759000	Strong transcription	NHLF	lung
43	chr4:129757200-129759400	Enhancers	HepG2	liver
44	chr4:129757200-129760000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:129757200-129761400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr4:129757200-129761600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:129757200-129761600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:129757200-129761600	Weak transcription	Lung	lung
49	chr4:129757200-129762400	Weak transcription	Esophagus	oesophagus
50	chr4:129757200-129762600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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