Variant report

Variant	rs59057644
Chromosome Location	chr2:97399579-97399580
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97399050..97401934-chr2:97425434..97428071,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158158	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17119606	1.00[AMR][1000 genomes]
rs41530648	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55806522	1.00[AMR][1000 genomes]
rs56984105	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57454641	1.00[AMR][1000 genomes]
rs57505323	1.00[AMR][1000 genomes]
rs57993098	1.00[AMR][1000 genomes]
rs58219990	1.00[AMR][1000 genomes]
rs59657357	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59881596	1.00[AMR][1000 genomes]
rs60242125	1.00[AMR][1000 genomes]
rs61745438	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72941255	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960687	1.00[AMR][1000 genomes]
rs7593245	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97368400-97405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:97372400-97400000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:97376000-97404000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:97377600-97399600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:97378000-97403600	Weak transcription	Stomach Mucosa	stomach
6	chr2:97381000-97403800	Strong transcription	Fetal Muscle Leg	muscle
7	chr2:97381200-97404800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:97383000-97403800	Strong transcription	Fetal Stomach	stomach
9	chr2:97385400-97403400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:97385800-97403800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:97390200-97400800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:97390400-97404000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr2:97390800-97403400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:97390800-97403600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:97391200-97403400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr2:97391400-97400800	Strong transcription	Liver	Liver
17	chr2:97391400-97403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:97391600-97403000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:97391600-97403200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:97391600-97403400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:97391600-97403600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:97391600-97403600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:97391600-97403800	Strong transcription	Fetal Thymus	thymus
24	chr2:97391600-97404000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:97392000-97400200	Strong transcription	Brain Cingulate Gyrus	brain
26	chr2:97392000-97400200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:97392000-97400600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr2:97392000-97403200	Strong transcription	A549	lung
29	chr2:97392000-97403800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:97392200-97400000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:97392200-97400400	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:97392200-97400800	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:97392200-97402200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:97392200-97402400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:97392200-97403400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:97392400-97402800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:97392400-97403400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:97392600-97403000	Strong transcription	Thymus	Thymus
39	chr2:97392600-97403800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr2:97392800-97399800	Strong transcription	Brain Hippocampus Middle	brain
41	chr2:97392800-97403400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr2:97393000-97399600	Strong transcription	Fetal Lung	lung
43	chr2:97393000-97400600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:97393000-97402000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:97393000-97402600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr2:97393000-97402600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:97393000-97403000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:97393200-97399800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:97393200-97400400	Strong transcription	Brain Substantia Nigra	brain
50	chr2:97393200-97400400	Strong transcription	Right Ventricle	heart

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