Variant report

Variant	rs28586572
Chromosome Location	chr4:2708681-2708682
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:2698027..2699882-chr4:2708019..2712089,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10010434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10012203	1.00[AMR][1000 genomes]
rs10019119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10022186	0.83[AFR][1000 genomes]
rs28536640	1.00[AMR][1000 genomes]
rs28663181	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:126 , 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	chr4:2673600-2714400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:2679400-2712600	Strong transcription	Fetal Stomach	stomach
4	chr4:2680200-2712800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:2680400-2712200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:2680800-2710200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr4:2681600-2712600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:2682600-2709800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:2682800-2710000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:2683200-2710000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:2683400-2710400	Strong transcription	Osteobl	bone
12	chr4:2684600-2710400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:2684600-2710800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:2685000-2710000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:2685200-2711000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:2685400-2708800	Strong transcription	Fetal Thymus	thymus
17	chr4:2685400-2709200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:2685600-2712800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:2687800-2715200	Weak transcription	Right Atrium	heart
20	chr4:2689000-2710000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:2691600-2713600	Strong transcription	Fetal Muscle Leg	muscle
22	chr4:2692000-2711600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr4:2692800-2712600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:2693400-2712600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:2696600-2710400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:2698600-2709000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:2698600-2710400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:2698800-2709000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:2699000-2711400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:2699400-2715200	Weak transcription	Fetal Heart	heart
31	chr4:2700200-2715200	Strong transcription	Fetal Intestine Small	intestine
32	chr4:2701000-2712200	Strong transcription	Liver	Liver
33	chr4:2701400-2718000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:2702000-2710600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:2702200-2723400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:2702400-2717200	Weak transcription	Psoas Muscle	Psoas
37	chr4:2704000-2716000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:2704600-2722000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:2704600-2747800	Weak transcription	Hela-S3	cervix
40	chr4:2705000-2715200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:2705000-2723400	Weak transcription	Fetal Brain Male	brain
42	chr4:2705000-2730600	Weak transcription	HMEC	breast
43	chr4:2705200-2711000	Weak transcription	HepG2	liver
44	chr4:2705200-2713600	Weak transcription	GM12878-XiMat	blood
45	chr4:2705400-2709600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr4:2705400-2713800	Weak transcription	Fetal Lung	lung
47	chr4:2705400-2714000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:2705400-2715000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr4:2705400-2715200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:2705400-2715200	Weak transcription	Brain Cingulate Gyrus	brain

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