Variant report

Variant	rs35430306
Chromosome Location	chr21:45605272-45605273
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45596803..45598450-chr21:45604660..45608499,3	K562	blood:
2	chr21:45604659..45607441-chr21:45758235..45760916,2	MCF-7	breast:
3	chr21:45604240..45606586-chr21:45719044..45721414,4	MCF-7	breast:
4	chr21:45603359..45606026-chr21:45717938..45720930,3	MCF-7	breast:
5	chr21:45604879..45610592-chr21:45658595..45664052,16	MCF-7	breast:
6	chr21:45604256..45606342-chr21:45755991..45757526,2	MCF-7	breast:
7	chr21:45604055..45605687-chr21:45626337..45628278,2	MCF-7	breast:
8	chr21:45604092..45606788-chr21:45665830..45668465,2	MCF-7	breast:
9	chr21:45604514..45606458-chr21:45660258..45661814,2	MCF-7	breast:
10	chr21:45595723..45596653-chr21:45604850..45605608,2	MCF-7	breast:
11	chr21:45601344..45603219-chr21:45605077..45607004,2	MCF-7	breast:
12	chr21:45605212..45608621-chr21:45608817..45614047,5	K562	blood:
13	chr21:45596950..45600837-chr21:45603449..45606160,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160226	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000232698	Chromatin interaction
ENSG00000141959	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs35787099	0.84[EUR][1000 genomes]
rs62228167	0.85[EUR][1000 genomes]
rs7280379	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription 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	64 gene(s)	inside rSNPs	diseases
11	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
12	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
13	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv913899	chr21:45577102-45611950	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45601400-45605600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:45602800-45612200	Weak transcription	Right Atrium	heart
3	chr21:45603200-45608200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:45604200-45605400	Flanking Active TSS	HSMMtube	muscle
5	chr21:45604200-45605600	Enhancers	Brain Anterior Caudate	brain
6	chr21:45604200-45605800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr21:45604200-45605800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr21:45604200-45606600	Enhancers	Fetal Muscle Leg	muscle
9	chr21:45604400-45605400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
10	chr21:45604400-45605400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
11	chr21:45604400-45605400	Enhancers	Fetal Thymus	thymus
12	chr21:45604400-45605400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr21:45604400-45605400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr21:45604400-45605600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr21:45604400-45605600	Enhancers	Brain Substantia Nigra	brain
16	chr21:45604400-45605600	Enhancers	HMEC	breast
17	chr21:45604400-45605600	Enhancers	HUVEC	blood vessel
18	chr21:45604400-45605600	Enhancers	NH-A	brain
19	chr21:45604400-45605800	Enhancers	Brain Angular Gyrus	brain
20	chr21:45604400-45605800	Enhancers	Esophagus	oesophagus
21	chr21:45604400-45605800	Enhancers	Gastric	stomach
22	chr21:45604400-45606000	Enhancers	Brain Cingulate Gyrus	brain
23	chr21:45604400-45606000	Enhancers	Stomach Mucosa	stomach
24	chr21:45604400-45606200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr21:45604400-45606200	Enhancers	Spleen	Spleen
26	chr21:45604400-45606800	Enhancers	GM12878-XiMat	blood
27	chr21:45604600-45605600	Enhancers	Adipose Nuclei	Adipose
28	chr21:45604600-45605600	Enhancers	Duodenum Mucosa	Duodenum
29	chr21:45604600-45605800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr21:45604600-45606400	Enhancers	Primary B cells from peripheral blood	blood
31	chr21:45604800-45605400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr21:45604800-45605400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr21:45604800-45605400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr21:45604800-45605400	Enhancers	Left Ventricle	heart
35	chr21:45604800-45605400	Enhancers	Ovary	ovary
36	chr21:45604800-45606000	Enhancers	Primary B cells from cord blood	blood
37	chr21:45604800-45606000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr21:45604800-45607200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr21:45605000-45605400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr21:45605000-45605400	Enhancers	Colonic Mucosa	Colon
41	chr21:45605000-45605400	Bivalent Enhancer	Fetal Intestine Small	intestine
42	chr21:45605000-45605400	Bivalent Enhancer	Fetal Stomach	stomach
43	chr21:45605000-45605400	Enhancers	Pancreas	Pancrea
44	chr21:45605000-45605400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr21:45605000-45605400	Enhancers	Small Intestine	intestine
46	chr21:45605000-45605400	Bivalent Enhancer	A549	lung
47	chr21:45605000-45605600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr21:45605000-45605600	Enhancers	Lung	lung
49	chr21:45605000-45605800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
50	chr21:45605000-45606000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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