Variant report

Variant	rs72493404
Chromosome Location	chr2:97438116-97438117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97436350..97439145-chr2:97451579..97454445,2	MCF-7	breast:
2	chr2:97436844..97439460-chr2:97454736..97456658,2	K562	blood:
3	chr2:97437914..97440608-chr2:97442411..97445406,2	MCF-7	breast:
4	chr2:97437410..97439937-chr2:97534605..97536290,2	MCF-7	breast:
5	chr2:97437670..97440264-chr2:97481677..97483519,3	MCF-7	breast:
6	chr2:97301089..97303275-chr2:97437934..97439702,2	MCF-7	breast:
7	chr2:97437615..97439395-chr2:97447867..97450601,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000168763	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2292939	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	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
10	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
11	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
12	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97430200-97439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:97430200-97440800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:97430200-97442400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:97430200-97462800	Weak transcription	Aorta	Aorta
5	chr2:97430400-97440800	Weak transcription	A549	lung
6	chr2:97430400-97441000	Weak transcription	NHLF	lung
7	chr2:97430400-97442400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:97430400-97452200	Weak transcription	Ovary	ovary
9	chr2:97430600-97438600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:97430600-97438600	Enhancers	Stomach Mucosa	stomach
11	chr2:97430600-97438800	Weak transcription	Fetal Thymus	thymus
12	chr2:97430800-97438600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:97430800-97439600	Genic enhancers	Fetal Intestine Small	intestine
14	chr2:97431400-97438400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:97431400-97439600	Weak transcription	Thymus	Thymus
16	chr2:97431400-97451400	Weak transcription	Hela-S3	cervix
17	chr2:97432200-97438200	Strong transcription	Primary T cells from cord blood	blood
18	chr2:97432400-97438200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:97432800-97438600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:97433000-97439800	Weak transcription	K562	blood
21	chr2:97433000-97466800	Weak transcription	Fetal Brain Male	brain
22	chr2:97433200-97439800	Weak transcription	Brain Germinal Matrix	brain
23	chr2:97433400-97438600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:97434000-97438200	Enhancers	Fetal Muscle Leg	muscle
25	chr2:97434200-97439800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:97434400-97438400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr2:97434400-97438600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:97434400-97439000	Weak transcription	Primary B cells from cord blood	blood
29	chr2:97434600-97438600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:97434600-97439000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:97434600-97439200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr2:97434600-97439200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr2:97434600-97441000	Weak transcription	Osteobl	bone
34	chr2:97435000-97438400	Enhancers	Placenta	Placenta
35	chr2:97435600-97438200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:97435600-97438400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:97436000-97438600	Weak transcription	Fetal Brain Female	brain
38	chr2:97436000-97441200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:97436000-97444000	Weak transcription	HSMM	muscle
40	chr2:97436200-97438200	Strong transcription	Fetal Stomach	stomach
41	chr2:97436200-97438200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr2:97436200-97438600	Weak transcription	Brain Anterior Caudate	brain
43	chr2:97436200-97439000	Weak transcription	Liver	Liver
44	chr2:97436200-97439600	Weak transcription	Adipose Nuclei	Adipose
45	chr2:97436200-97439600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:97436200-97439800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:97436200-97452600	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:97436400-97438200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr2:97436400-97439000	Weak transcription	Left Ventricle	heart
50	chr2:97436400-97442400	Weak transcription	HSMMtube	muscle

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