Variant report

Variant	rs7690005
Chromosome Location	chr4:88298581-88298582
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	chr4:88293477..88300868-chr4:88308814..88313684,7	K562	blood:

Variant related genes	Relation type
ENSG00000198189	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs61455435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7665178	1.00[AMR][1000 genomes]
rs7677089	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7677323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7684816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7696417	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7697166	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88254800-88311800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:88256200-88310600	Weak transcription	Right Ventricle	heart
3	chr4:88257800-88311800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:88267400-88308000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:88267800-88306000	Weak transcription	Fetal Brain Female	brain
6	chr4:88273400-88298800	Weak transcription	Fetal Heart	heart
7	chr4:88274400-88303400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:88275200-88299400	Strong transcription	Dnd41	blood
9	chr4:88276200-88311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:88276400-88302800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:88282600-88303200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:88287400-88308000	Weak transcription	Spleen	Spleen
13	chr4:88288000-88299400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:88290400-88305600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:88290800-88301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:88291000-88306000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:88291000-88309000	Weak transcription	Right Atrium	heart
18	chr4:88293000-88304800	Weak transcription	Brain Germinal Matrix	brain
19	chr4:88293000-88306800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:88293000-88307200	Weak transcription	Pancreas	Pancrea
21	chr4:88293000-88307600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:88293000-88308000	Weak transcription	Colonic Mucosa	Colon
23	chr4:88293000-88308800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:88293000-88309600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:88293000-88311200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:88293200-88302000	Weak transcription	Ovary	ovary
27	chr4:88293200-88308000	Weak transcription	Left Ventricle	heart
28	chr4:88293200-88309600	Weak transcription	Brain Hippocampus Middle	brain
29	chr4:88293200-88309600	Weak transcription	Gastric	stomach
30	chr4:88293200-88311400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:88293400-88304800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:88293400-88308000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:88293400-88309800	Weak transcription	Brain Anterior Caudate	brain
34	chr4:88294000-88300800	Weak transcription	Fetal Brain Male	brain
35	chr4:88294000-88302200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:88294000-88309400	Weak transcription	NHLF	lung
37	chr4:88294000-88309600	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:88294000-88311000	Weak transcription	HSMM	muscle
39	chr4:88294200-88302400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:88294200-88304800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:88294200-88307200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:88294200-88310800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:88294400-88303000	Weak transcription	Fetal Lung	lung
44	chr4:88294600-88308000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:88294800-88298600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr4:88294800-88302400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:88294800-88303000	Weak transcription	Small Intestine	intestine
48	chr4:88294800-88308000	Weak transcription	Lung	lung
49	chr4:88294800-88309400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr4:88295000-88302400	Weak transcription	Primary T cells from cord blood	blood

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