Variant report

Variant	rs13125136
Chromosome Location	chr4:2721080-2721081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13129679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13152126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34574967	1.00[AMR][1000 genomes]
rs35224370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35546272	0.90[EUR][1000 genomes]
rs71608211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71608217	1.00[AFR][1000 genomes]
rs71608219	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71608242	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1003409	chr4:2541224-2724199	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv878443	chr4:2598799-2731331	Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1005116	chr4:2633935-2812340	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv470001	chr4:2680515-2723531	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv593434	chr4:2688719-2737140	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv470002	chr4:2701098-2836628	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv878445	chr4:2704046-2831383	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv878446	chr4:2710644-2810634	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2638200-2724400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:2702200-2723400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:2704600-2722000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:2704600-2747800	Weak transcription	Hela-S3	cervix
5	chr4:2705000-2723400	Weak transcription	Fetal Brain Male	brain
6	chr4:2705000-2730600	Weak transcription	HMEC	breast
7	chr4:2705400-2722000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:2705400-2736600	Weak transcription	Fetal Kidney	kidney
9	chr4:2707200-2722200	Weak transcription	Small Intestine	intestine
10	chr4:2713600-2724400	Strong transcription	Dnd41	blood
11	chr4:2713800-2724600	Strong transcription	Fetal Brain Female	brain
12	chr4:2714000-2725800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:2714400-2736600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:2715000-2722000	Strong transcription	HepG2	liver
15	chr4:2715200-2724400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:2715600-2724800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:2715600-2727800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:2715600-2729600	Strong transcription	Fetal Intestine Small	intestine
19	chr4:2715600-2736000	Strong transcription	Fetal Intestine Large	intestine
20	chr4:2716000-2723200	Weak transcription	K562	blood
21	chr4:2716200-2721400	Weak transcription	Brain Angular Gyrus	brain
22	chr4:2716200-2724400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:2716200-2724600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:2716400-2723000	Weak transcription	NH-A	brain
25	chr4:2716400-2723400	Weak transcription	Pancreas	Pancrea
26	chr4:2716400-2724600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr4:2716400-2724600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr4:2716400-2725400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:2716400-2727600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:2716400-2728400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:2716600-2724400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:2716600-2724400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:2716600-2724600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:2716600-2724600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr4:2716600-2725400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr4:2716600-2737000	Strong transcription	Fetal Stomach	stomach
37	chr4:2716600-2737600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:2716600-2744600	Weak transcription	Stomach Mucosa	stomach
39	chr4:2716800-2721600	Weak transcription	Brain Anterior Caudate	brain
40	chr4:2716800-2724400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:2716800-2729000	Weak transcription	Fetal Heart	heart
42	chr4:2717000-2723600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:2717000-2724400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr4:2717000-2724400	Strong transcription	Fetal Thymus	thymus
45	chr4:2717000-2724600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr4:2717000-2724800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr4:2717000-2736600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr4:2717200-2723000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:2717200-2724000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:2717200-2724200	Strong transcription	Osteobl	bone

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