Variant report

Variant	rs73959418
Chromosome Location	chr2:97606654-97606655
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97601262..97604033-chr2:97606148..97607767,2	K562	blood:
2	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
3	chr2:97593591..97596299-chr2:97605457..97607301,3	K562	blood:
4	chr2:97524163..97526648-chr2:97606538..97609539,3	K562	blood:
5	chr2:97601087..97602762-chr2:97605805..97607767,2	K562	blood:
6	chr2:97590638..97593151-chr2:97603890..97606956,4	K562	blood:
7	chr2:97534564..97537262-chr2:97605518..97607538,2	K562	blood:

Variant related genes	Relation type
ENSG00000213337	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000168758	Chromatin interaction

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

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

rs_ID	r²[population]
rs12612694	1.00[EUR][1000 genomes]
rs12615663	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12616466	1.00[EUR][1000 genomes]
rs12620989	1.00[EUR][1000 genomes]
rs13419720	1.00[EUR][1000 genomes]
rs13421281	1.00[EUR][1000 genomes]
rs13422315	1.00[EUR][1000 genomes]
rs4481029	1.00[EUR][1000 genomes]
rs7582819	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597736	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking 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 miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97594000-97610200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:97599800-97609400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:97600200-97610400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:97605400-97607800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr2:97605800-97606800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr2:97605800-97606800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:97605800-97607400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:97605800-97607400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:97605800-97607400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:97605800-97607800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:97605800-97608000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:97606000-97606800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:97606000-97607400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:97606000-97607400	Enhancers	Fetal Thymus	thymus
15	chr2:97606200-97610400	Weak transcription	Brain Angular Gyrus	brain
16	chr2:97606200-97610800	Weak transcription	Fetal Brain Male	brain
17	chr2:97606200-97616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:97606400-97607400	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:97606600-97606800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:97606600-97607000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr2:97606600-97607200	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr2:97606600-97607200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:97606600-97607400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:97606600-97607400	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:97606600-97607400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr2:97606600-97607400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:97606600-97607400	Enhancers	Thymus	Thymus
28	chr2:97606600-97607600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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