Variant report

Variant	rs6709843
Chromosome Location	chr2:153395144-153395145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153390268..153392701-chr2:153393879..153395871,2	K562	blood:
2	chr2:153392705..153395187-chr2:153396758..153399412,2	K562	blood:
3	chr2:153392705..153395187-chr2:153396758..153400553,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1155778	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1529998	0.86[ASN][1000 genomes]
rs16831263	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2577175	0.86[ASN][1000 genomes]
rs2577177	0.89[ASN][1000 genomes]
rs2577178	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2577181	0.88[AMR][1000 genomes]
rs2678294	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678296	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678298	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678302	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4664594	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56281840	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713711	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6739300	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6739557	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72868235	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7579511	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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:49 , 50 per page) page: 1

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	chr2:153389800-153396200	Enhancers	Brain Hippocampus Middle	brain
10	chr2:153390400-153396400	Enhancers	Brain Anterior Caudate	brain
11	chr2:153390400-153399000	Enhancers	Brain Substantia Nigra	brain
12	chr2:153391400-153403800	Weak transcription	Fetal Brain Female	brain
13	chr2:153391600-153398800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:153391800-153398000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:153391800-153399000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:153392000-153398200	Weak transcription	HepG2	liver
17	chr2:153392000-153398400	Weak transcription	NHDF-Ad	bronchial
18	chr2:153392800-153398800	Weak transcription	Placenta	Placenta
19	chr2:153392800-153400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:153392800-153401200	Weak transcription	Psoas Muscle	Psoas
21	chr2:153392800-153402800	Weak transcription	Fetal Intestine Large	intestine
22	chr2:153392800-153404600	Weak transcription	Left Ventricle	heart
23	chr2:153393000-153398400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:153393400-153397600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:153393400-153398200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:153393400-153399000	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:153393600-153398400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:153393600-153399000	Weak transcription	Adipose Nuclei	Adipose
29	chr2:153393800-153397400	Weak transcription	NHEK	skin
30	chr2:153393800-153397600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:153393800-153398600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:153394000-153398000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:153394000-153398400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:153394000-153398400	Weak transcription	Ovary	ovary
35	chr2:153394000-153398600	Weak transcription	Fetal Stomach	stomach
36	chr2:153394000-153398600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:153394000-153399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:153394000-153399200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:153394000-153399200	Weak transcription	Aorta	Aorta
40	chr2:153394000-153399800	Weak transcription	Fetal Lung	lung
41	chr2:153394000-153401400	Weak transcription	Fetal Brain Male	brain
42	chr2:153394200-153397600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:153394200-153398800	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:153394400-153395200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:153394400-153395800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:153394800-153398200	Weak transcription	Brain Angular Gyrus	brain
47	chr2:153394800-153398800	Weak transcription	Lung	lung
48	chr2:153394800-153399000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:153395000-153395400	Weak transcription	Brain Cingulate Gyrus	brain

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