Variant report

Variant	rs6708543
Chromosome Location	chr2:33412822-33412823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10048778	1.00[CEU][hapmap]
rs10167324	1.00[CEU][hapmap]
rs10167399	1.00[CEU][hapmap]
rs10172685	1.00[EUR][1000 genomes]
rs10201412	1.00[CEU][hapmap]
rs10205851	1.00[CEU][hapmap]
rs12328471	1.00[EUR][1000 genomes]
rs13387581	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13401618	1.00[EUR][1000 genomes]
rs13401875	1.00[EUR][1000 genomes]
rs13404181	1.00[EUR][1000 genomes]
rs13417478	1.00[CEU][hapmap]
rs13417974	1.00[CEU][hapmap]
rs17012660	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17012689	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs58911278	1.00[EUR][1000 genomes]
rs6721333	1.00[CEU][hapmap]
rs6752708	1.00[CEU][hapmap]
rs72855734	1.00[EUR][1000 genomes]
rs72858006	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3387068	chr2:33404723-33413240	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33392800-33413600	Weak transcription	HUVEC	blood vessel
2	chr2:33394000-33420600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:33394400-33415000	Weak transcription	NHDF-Ad	bronchial
4	chr2:33400400-33413600	Weak transcription	Liver	Liver
5	chr2:33403800-33418800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:33404200-33413600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:33406400-33419400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:33408000-33422400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:33408200-33423000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:33408400-33415400	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr2:33408800-33413600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:33409000-33417200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:33409200-33413600	Weak transcription	Fetal Lung	lung
15	chr2:33409200-33441600	Weak transcription	Psoas Muscle	Psoas
16	chr2:33409600-33413600	Weak transcription	Right Ventricle	heart
17	chr2:33409600-33415200	Weak transcription	K562	blood
18	chr2:33409600-33415400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:33409800-33413600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:33410200-33414000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:33410400-33413600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:33410400-33415600	Weak transcription	Fetal Intestine Large	intestine
23	chr2:33410400-33423800	Weak transcription	Placenta	Placenta
24	chr2:33410400-33438000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:33410600-33415600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:33410600-33415600	Weak transcription	HSMMtube	muscle
27	chr2:33411200-33416000	Strong transcription	NHLF	lung
28	chr2:33411600-33421200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:33411800-33414800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:33411800-33416400	Strong transcription	Osteobl	bone
31	chr2:33412000-33414600	Strong transcription	Fetal Stomach	stomach
32	chr2:33412000-33418200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:33412200-33413600	Weak transcription	Fetal Heart	heart
34	chr2:33412200-33413800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:33412200-33415200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr2:33412200-33415200	Strong transcription	Left Ventricle	heart
37	chr2:33412200-33420600	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:33412400-33413600	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:33412400-33413600	Weak transcription	Ovary	ovary
40	chr2:33412400-33413600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:33412400-33415800	Weak transcription	Brain Anterior Caudate	brain
42	chr2:33412400-33419200	Weak transcription	Esophagus	oesophagus
43	chr2:33412400-33421400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:33412600-33413200	Weak transcription	Aorta	Aorta
45	chr2:33412600-33413400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:33412600-33413600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:33412800-33413000	Weak transcription	NH-A	brain
48	chr2:33412800-33419200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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