Variant report

Variant	rs17013852
Chromosome Location	chr4:129783770-129783771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129729755..129733795-chr4:129783264..129786218,5	MCF-7	breast:
2	chr4:129729294..129734540-chr4:129782960..129791658,9	K562	blood:
3	chr4:129770197..129772164-chr4:129783210..129785874,2	K562	blood:
4	chr4:129486871..129489829-chr4:129782805..129785623,2	K562	blood:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs17013725	1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013730	1.00[ASW][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs17013733	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013744	1.00[ASW][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013759	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013765	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013766	1.00[EUR][1000 genomes]
rs17013775	1.00[EUR][1000 genomes]
rs17013777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013786	1.00[EUR][1000 genomes]
rs17013787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013789	1.00[EUR][1000 genomes]
rs17013807	1.00[EUR][1000 genomes]
rs17013811	1.00[EUR][1000 genomes]
rs17013813	1.00[EUR][1000 genomes]
rs17013815	1.00[EUR][1000 genomes]
rs17013817	1.00[EUR][1000 genomes]
rs17013825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013827	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013835	1.00[ASW][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013841	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013854	1.00[EUR][1000 genomes]
rs17013857	1.00[ASW][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013862	1.00[EUR][1000 genomes]
rs17013866	0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013872	1.00[EUR][1000 genomes]
rs17013873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013877	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs17013882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17303098	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2004378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28635430	1.00[EUR][1000 genomes]
rs57153966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57547066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58296567	1.00[EUR][1000 genomes]
rs58580868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58593491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58728331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58755790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58922070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58981205	1.00[EUR][1000 genomes]
rs59682469	1.00[EUR][1000 genomes]
rs60787284	1.00[EUR][1000 genomes]
rs61306978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61620977	1.00[EUR][1000 genomes]
rs61696721	1.00[EUR][1000 genomes]
rs6813405	1.00[ASW][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs6827804	1.00[EUR][1000 genomes]
rs6848234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6850940	1.00[ASW][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6855813	1.00[ASW][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846991	1.00[EUR][1000 genomes]
rs73850004	1.00[EUR][1000 genomes]
rs7682356	0.81[YRI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
3	nsv1026938	chr4:129770961-129936205	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv870175	chr4:129771718-129937945	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1026772	chr4:129773881-129936205	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv461637	chr4:129774375-129924977	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv595397	chr4:129774375-129924977	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv461638	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv595398	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv1018994	chr4:129775612-129933968	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 miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv4504	chr4:129777368-129803959	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv1034996	chr4:129777825-129905255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv537249	chr4:129777825-129905255	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv1022446	chr4:129778025-129905116	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv537250	chr4:129778025-129905116	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 miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv1030296	chr4:129778025-129920680	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv537251	chr4:129778025-129920680	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129753600-129798600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:129753800-129795000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:129761600-129785000	Strong transcription	Thymus	Thymus
4	chr4:129762400-129784200	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr4:129762800-129784200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:129763000-129783800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:129763000-129785800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:129763000-129787200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:129763200-129784000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:129763200-129784000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:129763400-129784200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:129763600-129786600	Strong transcription	Fetal Intestine Large	intestine
13	chr4:129763800-129784000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr4:129763800-129784200	Strong transcription	Brain Germinal Matrix	brain
15	chr4:129764000-129784000	Strong transcription	Fetal Brain Female	brain
16	chr4:129766600-129784200	Strong transcription	HepG2	liver
17	chr4:129767200-129784400	Strong transcription	Aorta	Aorta
18	chr4:129767400-129783800	Strong transcription	Brain Angular Gyrus	brain
19	chr4:129767400-129784000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:129767800-129784200	Strong transcription	Liver	Liver
21	chr4:129768000-129784000	Strong transcription	Brain Anterior Caudate	brain
22	chr4:129768600-129784000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:129768800-129784400	Weak transcription	Stomach Mucosa	stomach
24	chr4:129769800-129784200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:129770600-129784000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:129772600-129786000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:129773200-129794000	Strong transcription	K562	blood
28	chr4:129773400-129783800	Strong transcription	Brain Hippocampus Middle	brain
29	chr4:129774000-129788600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr4:129776400-129784200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:129776400-129796200	Strong transcription	Dnd41	blood
32	chr4:129778800-129785000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:129779600-129809800	Weak transcription	Small Intestine	intestine
34	chr4:129779800-129793200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:129780200-129784800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:129780400-129784800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr4:129780600-129784200	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:129780800-129783800	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr4:129780800-129783800	Weak transcription	Fetal Brain Male	brain
40	chr4:129780800-129784000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:129780800-129784000	Strong transcription	Brain Cingulate Gyrus	brain
42	chr4:129780800-129784000	Strong transcription	Brain Substantia Nigra	brain
43	chr4:129780800-129784000	Strong transcription	Left Ventricle	heart
44	chr4:129780800-129784000	Weak transcription	Right Atrium	heart
45	chr4:129780800-129784600	Genic enhancers	Lung	lung
46	chr4:129781000-129784200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr4:129781000-129784800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr4:129781000-129784800	Genic enhancers	Fetal Muscle Leg	muscle
49	chr4:129781200-129784000	Strong transcription	Placenta	Placenta
50	chr4:129781400-129784200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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