Variant report

Variant	rs7604208
Chromosome Location	chr2:99229907-99229908
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99228591..99231174-chr2:99232216..99233879,2	MCF-7	breast:
2	chr2:99228421..99230051-chr2:99231331..99233752,2	MCF-7	breast:
3	chr2:99066464..99069419-chr2:99229209..99230942,2	K562	blood:

Variant related genes	Relation type
ENSG00000115446	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1001856	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10201079	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2174354	0.86[EUR][1000 genomes]
rs3754874	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3820947	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4851143	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6542781	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6542834	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][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	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer 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
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer 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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99225800-99235000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:99226400-99230000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:99226400-99230000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:99226600-99234400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:99226600-99234600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:99226600-99235000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:99226600-99235800	Strong transcription	HSMM	muscle
8	chr2:99226800-99232400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:99226800-99233600	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr2:99226800-99234400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:99226800-99235200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:99226800-99235400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:99226800-99235600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:99226800-99238600	Strong transcription	Primary B cells from cord blood	blood
15	chr2:99227000-99239000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:99227200-99230400	Strong transcription	Left Ventricle	heart
17	chr2:99227200-99230600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:99227200-99234800	Strong transcription	Fetal Muscle Leg	muscle
19	chr2:99227200-99234800	Strong transcription	Ovary	ovary
20	chr2:99227200-99235400	Strong transcription	NH-A	brain
21	chr2:99227200-99236000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr2:99227200-99236000	Strong transcription	Placenta	Placenta
23	chr2:99227200-99257400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:99227400-99230200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:99227400-99230200	Weak transcription	Small Intestine	intestine
26	chr2:99227400-99230800	Strong transcription	Fetal Kidney	kidney
27	chr2:99227400-99232400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:99227400-99233400	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr2:99227400-99234400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:99227400-99234600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:99227400-99234800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:99227400-99234800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:99227400-99234800	Strong transcription	Thymus	Thymus
34	chr2:99227400-99234800	Strong transcription	A549	lung
35	chr2:99227400-99234800	Strong transcription	HSMMtube	muscle
36	chr2:99227400-99235000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr2:99227400-99235200	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:99227400-99235400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:99227400-99235400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:99227400-99235600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:99227400-99235600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:99227400-99235800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:99227600-99233400	Strong transcription	Primary T cells from cord blood	blood
44	chr2:99227600-99234000	Strong transcription	HMEC	breast
45	chr2:99227600-99234200	Strong transcription	Fetal Stomach	stomach
46	chr2:99227600-99235000	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr2:99227600-99235200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr2:99227600-99235200	Strong transcription	Osteobl	bone
49	chr2:99227600-99243200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:99227800-99230000	Weak transcription	Gastric	stomach

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