Variant report

Variant	rs849122
Chromosome Location	chr2:206023028-206023029
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: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11897011	1.00[ASN][1000 genomes]
rs1207413	1.00[ASN][1000 genomes]
rs13389747	1.00[ASN][1000 genomes]
rs16836888	1.00[YRI][hapmap]
rs16837235	1.00[ASN][1000 genomes]
rs59617257	1.00[ASN][1000 genomes]
rs73058323	1.00[ASN][1000 genomes]
rs849192	1.00[ASN][1000 genomes]
rs849213	1.00[ASN][1000 genomes]
rs861066	1.00[ASN][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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205970000-206026000	Weak transcription	HSMMtube	muscle
2	chr2:205976800-206024400	Weak transcription	Aorta	Aorta
3	chr2:205991000-206036600	Weak transcription	HSMM	muscle
4	chr2:205994600-206025800	Weak transcription	Fetal Kidney	kidney
5	chr2:206009000-206058000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:206012600-206024200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:206014600-206035800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:206015200-206023200	Weak transcription	Pancreas	Pancrea
9	chr2:206020400-206025400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:206020600-206024200	Weak transcription	Adipose Nuclei	Adipose
11	chr2:206021200-206024000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:206021600-206053000	Weak transcription	Ovary	ovary
13	chr2:206021600-206058000	Weak transcription	Left Ventricle	heart
14	chr2:206021800-206038000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:206022000-206025800	Weak transcription	Right Ventricle	heart
16	chr2:206022600-206024200	Weak transcription	Fetal Intestine Large	intestine
17	chr2:206022600-206024200	Weak transcription	Fetal Stomach	stomach
18	chr2:206022800-206026000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:206022800-206035400	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:206023000-206036000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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