Variant report

Variant	rs17013959
Chromosome Location	chr4:129865834-129865835
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	chr4:129863629..129866387-chr4:129870052..129872955,2	K562	blood:

Extended variants
information (count: 131 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10518540	1.00[ASN][1000 genomes]
rs11934130	0.83[ASN][1000 genomes]
rs11935616	0.83[ASN][1000 genomes]
rs11936845	0.83[ASN][1000 genomes]
rs11940367	0.83[ASN][1000 genomes]
rs11944075	0.83[ASN][1000 genomes]
rs11944782	0.83[ASN][1000 genomes]
rs11945797	0.83[ASN][1000 genomes]
rs11945943	0.83[ASN][1000 genomes]
rs1446997	0.83[ASN][1000 genomes]
rs1446998	0.83[ASN][1000 genomes]
rs17013912	1.00[ASN][1000 genomes]
rs17013921	1.00[ASN][1000 genomes]
rs17013948	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17013950	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17013952	1.00[ASN][1000 genomes]
rs17013957	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17013962	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1807772	0.83[ASN][1000 genomes]
rs2167243	0.83[ASN][1000 genomes]
rs34610325	0.83[ASN][1000 genomes]
rs3765056	0.83[ASN][1000 genomes]
rs4323125	0.83[ASN][1000 genomes]
rs55722445	0.83[ASN][1000 genomes]
rs55726726	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55764329	0.83[ASN][1000 genomes]
rs56133600	1.00[ASN][1000 genomes]
rs56736556	0.83[ASN][1000 genomes]
rs56873035	0.83[ASN][1000 genomes]
rs57211895	0.83[ASN][1000 genomes]
rs57821290	0.83[ASN][1000 genomes]
rs58053026	0.83[ASN][1000 genomes]
rs58916388	0.83[ASN][1000 genomes]
rs58952520	0.83[ASN][1000 genomes]
rs59003275	0.83[ASN][1000 genomes]
rs59089843	0.83[ASN][1000 genomes]
rs59443911	0.83[ASN][1000 genomes]
rs60404916	0.83[ASN][1000 genomes]
rs60617520	0.83[ASN][1000 genomes]
rs60927243	0.83[ASN][1000 genomes]
rs61177405	0.83[ASN][1000 genomes]
rs61264206	0.83[ASN][1000 genomes]
rs61467458	1.00[ASN][1000 genomes]
rs61491906	0.83[ASN][1000 genomes]
rs72922045	0.83[ASN][1000 genomes]
rs72922049	0.83[ASN][1000 genomes]
rs72922051	0.83[ASN][1000 genomes]
rs72922052	0.83[ASN][1000 genomes]
rs72922056	0.83[ASN][1000 genomes]
rs72922058	0.83[ASN][1000 genomes]
rs72922062	0.83[ASN][1000 genomes]
rs72922082	0.83[ASN][1000 genomes]
rs72922091	0.83[ASN][1000 genomes]
rs72922096	0.83[ASN][1000 genomes]
rs72922102	0.83[ASN][1000 genomes]
rs72924107	0.83[ASN][1000 genomes]
rs72924109	0.83[ASN][1000 genomes]
rs72924111	0.83[ASN][1000 genomes]
rs72924119	0.83[ASN][1000 genomes]
rs72924120	0.83[ASN][1000 genomes]
rs72924125	0.83[ASN][1000 genomes]
rs72924128	0.83[ASN][1000 genomes]
rs72924140	0.83[ASN][1000 genomes]
rs72924141	0.83[ASN][1000 genomes]
rs72924143	0.83[ASN][1000 genomes]
rs72924145	0.83[ASN][1000 genomes]
rs72924147	0.83[ASN][1000 genomes]
rs72924151	0.83[ASN][1000 genomes]
rs72924153	0.83[ASN][1000 genomes]
rs72924155	0.83[ASN][1000 genomes]
rs72924164	0.83[ASN][1000 genomes]
rs72924166	0.83[ASN][1000 genomes]
rs72924176	0.83[ASN][1000 genomes]
rs72924178	0.83[ASN][1000 genomes]
rs72924187	0.83[ASN][1000 genomes]
rs72924189	0.83[ASN][1000 genomes]
rs72924196	0.83[ASN][1000 genomes]
rs72926023	0.83[ASN][1000 genomes]
rs72926055	0.83[ASN][1000 genomes]
rs72926058	0.83[ASN][1000 genomes]
rs72926059	0.83[ASN][1000 genomes]
rs72926066	0.83[ASN][1000 genomes]
rs72926070	0.83[ASN][1000 genomes]
rs72926073	0.83[ASN][1000 genomes]
rs72926076	0.83[ASN][1000 genomes]
rs72926084	0.83[ASN][1000 genomes]
rs72927912	0.83[ASN][1000 genomes]
rs72927913	0.83[ASN][1000 genomes]
rs72927914	0.83[ASN][1000 genomes]
rs72927916	0.83[ASN][1000 genomes]
rs72927920	0.83[ASN][1000 genomes]
rs72927925	0.83[ASN][1000 genomes]
rs72927931	0.83[ASN][1000 genomes]
rs73847303	0.83[ASN][1000 genomes]
rs73847310	0.83[ASN][1000 genomes]
rs73847338	0.83[ASN][1000 genomes]
rs73847349	0.83[ASN][1000 genomes]
rs73850029	1.00[ASN][1000 genomes]
rs73850031	1.00[ASN][1000 genomes]
rs73850033	1.00[ASN][1000 genomes]
rs73850038	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73850040	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73850042	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73850043	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73850062	0.83[ASN][1000 genomes]
rs73850063	0.83[ASN][1000 genomes]
rs7682145	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
13	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
14	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
15	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
16	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
17	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
18	esv2830419	chr4:129785483-129905256	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
19	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1026722	chr4:129801602-129929219	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv537252	chr4:129801602-129929219	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv595399	chr4:129835649-129924852	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv1020327	chr4:129859624-129914665	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129793800-129907200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:129821400-129867800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:129829800-129873000	Weak transcription	Brain Substantia Nigra	brain
4	chr4:129834800-129907400	Weak transcription	Aorta	Aorta
5	chr4:129837600-129888200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:129839600-129882800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:129839800-129882800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:129839800-129907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:129841000-129907400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:129843600-129888000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:129844800-129867200	Weak transcription	Left Ventricle	heart
12	chr4:129845000-129882800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:129845400-129907400	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:129845800-129907200	Weak transcription	Ovary	ovary
15	chr4:129847800-129895400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:129848800-129867600	Weak transcription	Fetal Stomach	stomach
17	chr4:129850600-129869600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:129851000-129879000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:129851600-129867800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:129854600-129870000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr4:129855200-129907800	Weak transcription	K562	blood
22	chr4:129855400-129871400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:129855400-129895200	Weak transcription	Fetal Kidney	kidney
24	chr4:129856400-129867800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:129856400-129907200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:129858600-129891200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:129858800-129870600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:129859600-129868600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:129861000-129907200	Weak transcription	Thymus	Thymus
30	chr4:129861200-129868000	Weak transcription	Lung	lung
31	chr4:129862000-129868600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:129862000-129869600	Weak transcription	Fetal Heart	heart
33	chr4:129862200-129870000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:129862200-129877600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:129862400-129881600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:129862400-129924200	Weak transcription	Colonic Mucosa	Colon
37	chr4:129862800-129868800	Strong transcription	Fetal Thymus	thymus
38	chr4:129863000-129868600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:129863400-129882800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:129863600-129892000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:129863800-129866000	Weak transcription	HUVEC	blood vessel
42	chr4:129863800-129871200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:129863800-129888600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:129864000-129867800	Weak transcription	Fetal Intestine Large	intestine
45	chr4:129864000-129871200	Weak transcription	NHDF-Ad	bronchial
46	chr4:129864000-129871400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:129864000-129874200	Weak transcription	Psoas Muscle	Psoas
48	chr4:129864000-129875000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr4:129864000-129882400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:129864000-129882800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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