Variant report

Variant	rs6721820
Chromosome Location	chr2:145186664-145186665
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	chr2:145186231..145188359-chr2:145273055..145275396,2	K562	blood:

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16823675	0.80[CEU][hapmap]
rs16823683	0.85[TSI][hapmap]
rs2288353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770305	0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv535953	chr2:145099512-145336083	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv535954	chr2:145128008-145311097	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv535955	chr2:145143961-145298714	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv535956	chr2:145178224-145311097	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145140800-145189800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:145157600-145192000	Weak transcription	Spleen	Spleen
3	chr2:145157800-145206200	Weak transcription	Lung	lung
4	chr2:145158200-145187200	Weak transcription	Aorta	Aorta
5	chr2:145159000-145193800	Weak transcription	Dnd41	blood
6	chr2:145161800-145187200	Weak transcription	Left Ventricle	heart
7	chr2:145161800-145188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:145162600-145188000	Weak transcription	Right Atrium	heart
9	chr2:145162600-145206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:145172200-145187200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:145172200-145187200	Weak transcription	Psoas Muscle	Psoas
12	chr2:145172200-145187400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:145174400-145187200	Strong transcription	K562	blood
14	chr2:145176400-145187400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:145179000-145210200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:145181600-145189600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:145182200-145190800	Genic enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:145182400-145187000	Enhancers	Brain Angular Gyrus	brain
19	chr2:145182800-145187200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:145182800-145188200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:145183000-145188000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:145183000-145188400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:145183000-145194600	Weak transcription	Hela-S3	cervix
24	chr2:145184000-145186800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:145184000-145187800	Genic enhancers	Fetal Lung	lung
26	chr2:145184400-145187600	Genic enhancers	NHDF-Ad	bronchial
27	chr2:145184400-145188800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:145184600-145187000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:145184600-145188200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:145184600-145188600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:145184600-145193200	Genic enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:145184800-145188800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:145185000-145187000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:145185000-145187200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:145185000-145187200	Strong transcription	Fetal Muscle Leg	muscle
36	chr2:145185000-145187200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:145185000-145187600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:145185000-145187800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:145185000-145188000	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:145185000-145188200	Weak transcription	Pancreas	Pancrea
41	chr2:145185000-145188400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:145185000-145188400	Weak transcription	Ovary	ovary
43	chr2:145185000-145196000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr2:145185200-145187200	Active TSS	Brain Germinal Matrix	brain
45	chr2:145185200-145187200	Genic enhancers	Brain Hippocampus Middle	brain
46	chr2:145185200-145187200	Weak transcription	Small Intestine	intestine
47	chr2:145185200-145187400	Strong transcription	Adipose Nuclei	Adipose
48	chr2:145185200-145187600	Strong transcription	Primary B cells from cord blood	blood
49	chr2:145185200-145188000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:145185200-145188000	Weak transcription	Right Ventricle	heart

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