Variant report

Variant	rs73850064
Chromosome Location	chr4:129871254-129871255
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	chr4:129863629..129866387-chr4:129870052..129872955,2	K562	blood:
2	chr4:129869703..129871375-chr4:129874757..129876510,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs55707740	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55714747	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55753141	1.00[AMR][1000 genomes]
rs55764329	1.00[AFR][1000 genomes]
rs55955516	0.91[AFR][1000 genomes]
rs56002856	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56017737	1.00[AMR][1000 genomes]
rs56069250	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56721576	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57056827	1.00[AMR][1000 genomes]
rs57243721	1.00[AMR][1000 genomes]
rs57542268	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57925170	1.00[AMR][1000 genomes]
rs58053026	1.00[AFR][1000 genomes]
rs58701517	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58799593	1.00[AMR][1000 genomes]
rs60005322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60227965	1.00[AMR][1000 genomes]
rs61267810	0.91[AFR][1000 genomes]
rs61700015	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73846989	1.00[AMR][1000 genomes]
rs73846992	1.00[AMR][1000 genomes]
rs73846993	1.00[AMR][1000 genomes]
rs73846994	1.00[AMR][1000 genomes]
rs73846999	1.00[AMR][1000 genomes]
rs73847304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847305	0.91[AFR][1000 genomes]
rs73847310	1.00[AFR][1000 genomes]
rs73847312	1.00[AMR][1000 genomes]
rs73847313	1.00[AMR][1000 genomes]
rs73847314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847316	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847317	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847323	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847326	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847327	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847329	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847331	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847332	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847333	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847334	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847341	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847342	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847345	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847347	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847354	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847355	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847356	0.82[AFR][1000 genomes]
rs73847358	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847375	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847378	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847380	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847383	1.00[AMR][1000 genomes]
rs73847391	1.00[AMR][1000 genomes]
rs73847392	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847395	1.00[AMR][1000 genomes]
rs73847399	1.00[AMR][1000 genomes]
rs73848906	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848910	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848913	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848934	0.91[AFR][1000 genomes]
rs73850005	1.00[AMR][1000 genomes]
rs73850009	1.00[AMR][1000 genomes]
rs73850010	1.00[AMR][1000 genomes]
rs73850011	1.00[AMR][1000 genomes]
rs73850012	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850013	1.00[AMR][1000 genomes]
rs73850015	1.00[AMR][1000 genomes]
rs73850016	1.00[AMR][1000 genomes]
rs73850017	1.00[AMR][1000 genomes]
rs73850018	1.00[AMR][1000 genomes]
rs73850019	1.00[AMR][1000 genomes]
rs73850027	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850028	1.00[AMR][1000 genomes]
rs73850035	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850039	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850041	1.00[AMR][1000 genomes]
rs73850059	1.00[AMR][1000 genomes]
rs73850061	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850062	1.00[AFR][1000 genomes]
rs73850063	1.00[AFR][1000 genomes]

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:81 , 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	chr4:129829800-129873000	Weak transcription	Brain Substantia Nigra	brain
3	chr4:129834800-129907400	Weak transcription	Aorta	Aorta
4	chr4:129837600-129888200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:129839600-129882800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:129839800-129882800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:129839800-129907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:129841000-129907400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:129843600-129888000	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:129845000-129882800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:129845400-129907400	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:129845800-129907200	Weak transcription	Ovary	ovary
13	chr4:129847800-129895400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:129851000-129879000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:129855200-129907800	Weak transcription	K562	blood
16	chr4:129855400-129871400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:129855400-129895200	Weak transcription	Fetal Kidney	kidney
18	chr4:129856400-129907200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:129858600-129891200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:129861000-129907200	Weak transcription	Thymus	Thymus
21	chr4:129862200-129877600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:129862400-129881600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:129862400-129924200	Weak transcription	Colonic Mucosa	Colon
24	chr4:129863400-129882800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:129863600-129892000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:129863800-129888600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:129864000-129871400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:129864000-129874200	Weak transcription	Psoas Muscle	Psoas
29	chr4:129864000-129875000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:129864000-129882400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr4:129864000-129882800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:129864000-129895400	Weak transcription	NHLF	lung
33	chr4:129864000-129918000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:129864200-129895400	Weak transcription	Fetal Lung	lung
35	chr4:129864400-129874000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr4:129864400-129879200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:129864400-129882600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr4:129864400-129885400	Weak transcription	HMEC	breast
39	chr4:129864400-129901000	Weak transcription	A549	lung
40	chr4:129864600-129888200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr4:129865600-129907200	Weak transcription	Pancreas	Pancrea
42	chr4:129866400-129871800	Weak transcription	HUVEC	blood vessel
43	chr4:129866400-129888600	Weak transcription	NH-A	brain
44	chr4:129866400-129888800	Weak transcription	Brain Germinal Matrix	brain
45	chr4:129866400-129907600	Weak transcription	Small Intestine	intestine
46	chr4:129866600-129916600	Weak transcription	Right Ventricle	heart
47	chr4:129866800-129916200	Weak transcription	Hela-S3	cervix
48	chr4:129867000-129907400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:129867200-129872000	Weak transcription	Osteobl	bone
50	chr4:129868200-129882600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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