Variant report

Variant	rs6739300
Chromosome Location	chr2:153397674-153397675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153395557..153397205-chr2:153397289..153398856,2	MCF-7	breast:
2	chr2:153392705..153395187-chr2:153396758..153399412,2	K562	blood:
3	chr2:153392705..153395187-chr2:153396758..153400553,3	K562	blood:

Variant related genes	Relation type
ENSG00000270776	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1155778	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1529998	0.92[ASN][1000 genomes]
rs16831263	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2577175	0.92[ASN][1000 genomes]
rs2577177	0.95[ASN][1000 genomes]
rs2577178	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2678294	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2678296	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2678298	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2678302	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4664594	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56281840	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6709843	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6713711	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6739557	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72868235	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7579511	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153382400-153398800	Weak transcription	Fetal Intestine Small	intestine
3	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
4	chr2:153384000-153398200	Weak transcription	HMEC	breast
5	chr2:153386200-153399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:153386200-153399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:153386800-153400000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:153389000-153398200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:153390400-153399000	Enhancers	Brain Substantia Nigra	brain
10	chr2:153391400-153403800	Weak transcription	Fetal Brain Female	brain
11	chr2:153391600-153398800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:153391800-153398000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:153391800-153399000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:153392000-153398200	Weak transcription	HepG2	liver
15	chr2:153392000-153398400	Weak transcription	NHDF-Ad	bronchial
16	chr2:153392800-153398800	Weak transcription	Placenta	Placenta
17	chr2:153392800-153400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:153392800-153401200	Weak transcription	Psoas Muscle	Psoas
19	chr2:153392800-153402800	Weak transcription	Fetal Intestine Large	intestine
20	chr2:153392800-153404600	Weak transcription	Left Ventricle	heart
21	chr2:153393000-153398400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:153393400-153398200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:153393400-153399000	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:153393600-153398400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:153393600-153399000	Weak transcription	Adipose Nuclei	Adipose
26	chr2:153393800-153398600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:153394000-153398000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:153394000-153398400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:153394000-153398400	Weak transcription	Ovary	ovary
30	chr2:153394000-153398600	Weak transcription	Fetal Stomach	stomach
31	chr2:153394000-153398600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:153394000-153399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:153394000-153399200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:153394000-153399200	Weak transcription	Aorta	Aorta
35	chr2:153394000-153399800	Weak transcription	Fetal Lung	lung
36	chr2:153394000-153401400	Weak transcription	Fetal Brain Male	brain
37	chr2:153394200-153398800	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:153394800-153398200	Weak transcription	Brain Angular Gyrus	brain
39	chr2:153394800-153398800	Weak transcription	Lung	lung
40	chr2:153394800-153399000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:153396000-153399000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:153396200-153398800	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:153396400-153397800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:153396400-153399000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:153397400-153399000	Enhancers	NHEK	skin
46	chr2:153397400-153399400	Enhancers	Brain Anterior Caudate	brain
47	chr2:153397400-153399400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr2:153397600-153398000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:153397600-153400000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:153397600-153400400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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