Variant report

Variant	rs3816604
Chromosome Location	chr4:129794744-129794745
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17013730	1.00[ASN][1000 genomes]
rs17013766	1.00[ASN][1000 genomes]
rs17013768	1.00[ASN][1000 genomes]
rs17013775	1.00[ASN][1000 genomes]
rs17013786	1.00[ASN][1000 genomes]
rs17013789	1.00[ASN][1000 genomes]
rs17013807	1.00[ASN][1000 genomes]
rs17013811	1.00[ASN][1000 genomes]
rs17013813	1.00[ASN][1000 genomes]
rs17013815	1.00[ASN][1000 genomes]
rs17013817	1.00[ASN][1000 genomes]
rs17013854	1.00[ASN][1000 genomes]
rs17013862	1.00[ASN][1000 genomes]
rs17013872	1.00[ASN][1000 genomes]
rs17013877	1.00[ASN][1000 genomes]
rs28635430	1.00[ASN][1000 genomes]
rs56180223	1.00[ASN][1000 genomes]
rs58296567	1.00[ASN][1000 genomes]
rs59682469	1.00[ASN][1000 genomes]
rs60787284	1.00[ASN][1000 genomes]
rs61696721	1.00[ASN][1000 genomes]
rs6813405	1.00[ASN][1000 genomes]
rs6827804	1.00[ASN][1000 genomes]
rs72922052	0.83[AMR][1000 genomes]
rs72922062	0.83[AMR][1000 genomes]
rs73846991	1.00[ASN][1000 genomes]
rs73850003	1.00[ASN][1000 genomes]
rs73850004	1.00[ASN][1000 genomes]
rs7682356	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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
19	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
20	nsv533785	chr4:129785683-129857992	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 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	chr4:129776400-129796200	Strong transcription	Dnd41	blood
4	chr4:129779600-129809800	Weak transcription	Small Intestine	intestine
5	chr4:129783400-129800600	Weak transcription	Fetal Kidney	kidney
6	chr4:129784400-129799200	Weak transcription	Fetal Brain Male	brain
7	chr4:129784600-129795000	Strong transcription	Primary B cells from cord blood	blood
8	chr4:129784600-129798400	Strong transcription	Fetal Thymus	thymus
9	chr4:129784800-129795200	Strong transcription	Primary T cells from cord blood	blood
10	chr4:129784800-129795400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:129784800-129795800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:129784800-129796800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr4:129784800-129798400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:129785000-129797200	Weak transcription	NHEK	skin
15	chr4:129785000-129798600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:129785200-129795000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:129785200-129795200	Strong transcription	GM12878-XiMat	blood
18	chr4:129785400-129795400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:129785400-129796000	Strong transcription	HSMM	muscle
20	chr4:129785600-129795200	Strong transcription	Fetal Muscle Leg	muscle
21	chr4:129785800-129795200	Strong transcription	Adipose Nuclei	Adipose
22	chr4:129785800-129795600	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr4:129786000-129795000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:129786000-129796800	Strong transcription	Liver	Liver
25	chr4:129786600-129795800	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr4:129787200-129795400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:129787200-129796000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:129787400-129795000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:129787400-129795800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr4:129787400-129795800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:129787600-129795200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr4:129787600-129796000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:129787600-129796000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr4:129787800-129795000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:129788000-129795200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr4:129788200-129795200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:129788200-129795800	Strong transcription	HUVEC	blood vessel
38	chr4:129789000-129797000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:129789400-129811200	Weak transcription	Placenta	Placenta
40	chr4:129789800-129795200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:129790200-129796800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:129790200-129798400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:129790200-129798600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr4:129790600-129798000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr4:129791400-129795200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:129791400-129795200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:129792000-129795000	Strong transcription	Rectal Smooth Muscle	rectum
48	chr4:129792400-129797200	Weak transcription	Hela-S3	cervix
49	chr4:129792800-129796000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr4:129793000-129794800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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