Variant report

Variant	rs11903420
Chromosome Location	chr2:33393422-33393423
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	chr2:33383408..33387314-chr2:33391651..33394582,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13398513	1.00[EUR][1000 genomes]
rs13413448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13417676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012822	1.00[EUR][1000 genomes]
rs41470344	1.00[EUR][1000 genomes]
rs58911278	0.83[AMR][1000 genomes]
rs72855711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7591623	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33369800-33404000	Weak transcription	Right Ventricle	heart
2	chr2:33371600-33395600	Weak transcription	Psoas Muscle	Psoas
3	chr2:33375000-33408400	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:33388800-33394000	Weak transcription	Fetal Lung	lung
5	chr2:33389800-33394400	Enhancers	NHDF-Ad	bronchial
6	chr2:33390000-33394400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:33390000-33394400	Enhancers	NHLF	lung
8	chr2:33390200-33393800	Weak transcription	Fetal Heart	heart
9	chr2:33390200-33394800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:33390400-33394400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:33391800-33394400	Enhancers	Ovary	ovary
12	chr2:33391800-33394800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:33392000-33394400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:33392200-33393800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:33392200-33393800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:33392200-33394400	Enhancers	Osteobl	bone
17	chr2:33392200-33411800	Weak transcription	Left Ventricle	heart
18	chr2:33392400-33394400	Enhancers	Stomach Smooth Muscle	stomach
19	chr2:33392600-33393600	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:33392600-33394200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:33392600-33394400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr2:33392600-33405600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:33392800-33393600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:33392800-33413600	Weak transcription	HUVEC	blood vessel
25	chr2:33393000-33394000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:33393000-33405000	Weak transcription	Aorta	Aorta
27	chr2:33393200-33408400	Weak transcription	NH-A	brain
28	chr2:33393400-33394000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:33393400-33405000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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