Variant report

Variant	rs849114
Chromosome Location	chr2:206027186-206027187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:206022756..206024653-chr2:206025824..206027796,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10084396	1.00[AMR][1000 genomes]
rs10166926	1.00[AMR][1000 genomes]
rs1017399	1.00[AMR][1000 genomes]
rs12694014	1.00[AMR][1000 genomes]
rs1368947	1.00[AMR][1000 genomes]
rs1434155	1.00[AMR][1000 genomes]
rs1510767	1.00[AMR][1000 genomes]
rs1510768	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1540362	1.00[AMR][1000 genomes]
rs1540363	1.00[AMR][1000 genomes]
rs1567502	1.00[AMR][1000 genomes]
rs4673312	1.00[AMR][1000 genomes]
rs4673314	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4675479	1.00[AMR][1000 genomes]
rs4675480	1.00[AMR][1000 genomes]
rs4675483	1.00[AMR][1000 genomes]
rs4675492	1.00[AMR][1000 genomes]
rs4675493	1.00[AMR][1000 genomes]
rs55668233	1.00[AMR][1000 genomes]
rs6748535	1.00[AMR][1000 genomes]
rs73982881	1.00[AMR][1000 genomes]
rs7424966	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7585765	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7602418	1.00[AMR][1000 genomes]
rs7607440	1.00[AMR][1000 genomes]
rs849105	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs849108	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs849109	0.91[AFR][1000 genomes]
rs849112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs849117	1.00[AMR][1000 genomes]
rs849130	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs849131	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs971766	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv16739	chr2:205898770-206127984	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1000779	chr2:205969138-206064554	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1009424	chr2:205969138-206078240	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv525418	chr2:205969220-206077607	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv875729	chr2:205972555-206027314	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205991000-206036600	Weak transcription	HSMM	muscle
2	chr2:206009000-206058000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:206014600-206035800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:206021600-206053000	Weak transcription	Ovary	ovary
5	chr2:206021600-206058000	Weak transcription	Left Ventricle	heart
6	chr2:206021800-206038000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:206022800-206035400	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:206023000-206036000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:206023400-206036400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:206023400-206036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:206024200-206060400	Weak transcription	Liver	Liver
12	chr2:206024600-206027400	Enhancers	Colon Smooth Muscle	Colon
13	chr2:206024800-206028200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:206025000-206052000	Weak transcription	Fetal Intestine Large	intestine
15	chr2:206025200-206027600	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:206025200-206052600	Weak transcription	Fetal Stomach	stomach
17	chr2:206025200-206060200	Weak transcription	Pancreas	Pancrea
18	chr2:206025800-206047600	Weak transcription	Aorta	Aorta
19	chr2:206025800-206058000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:206026000-206027400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:206026000-206027600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:206026000-206058000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:206026600-206042600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:206027000-206027200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:206027000-206027200	Enhancers	Psoas Muscle	Psoas

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