Variant report

Variant	rs59657357
Chromosome Location	chr2:97371533-97371534
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97371196..97374450-chr2:97376131..97379263,3	K562	blood:
2	chr2:97369454..97371972-chr2:97373419..97375966,2	K562	blood:
3	chr2:97361665..97367083-chr2:97369307..97373546,6	K562	blood:
4	chr2:97350901..97353788-chr2:97370557..97372504,2	MCF-7	breast:
5	chr2:97370422..97372172-chr2:97376973..97379137,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114988	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17119606	1.00[AMR][1000 genomes]
rs41530648	1.00[AMR][1000 genomes]
rs55806522	1.00[AMR][1000 genomes]
rs56984105	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]
rs59057644	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60242125	1.00[AMR][1000 genomes]
rs61745438	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72941255	0.81[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97351800-97372800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:97351800-97373600	Weak transcription	Fetal Brain Male	brain
3	chr2:97358400-97375400	Weak transcription	Fetal Heart	heart
4	chr2:97360800-97375000	Strong transcription	Fetal Intestine Small	intestine
5	chr2:97360800-97381200	Strong transcription	Fetal Stomach	stomach
6	chr2:97361200-97371600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:97361400-97371800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:97362600-97376600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:97362800-97379800	Strong transcription	Fetal Intestine Large	intestine
10	chr2:97365000-97389400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr2:97365200-97387000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:97365400-97382400	Strong transcription	Primary T cells from cord blood	blood
13	chr2:97365600-97380400	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:97365800-97372000	Weak transcription	Brain Substantia Nigra	brain
15	chr2:97365800-97375000	Strong transcription	Fetal Brain Female	brain
16	chr2:97366000-97379800	Strong transcription	Fetal Muscle Leg	muscle
17	chr2:97366400-97372000	Weak transcription	NHDF-Ad	bronchial
18	chr2:97366800-97380200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr2:97367200-97378000	Strong transcription	Colonic Mucosa	Colon
20	chr2:97367400-97372000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:97367400-97372000	Weak transcription	Stomach Mucosa	stomach
22	chr2:97367400-97375000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:97367400-97377800	Strong transcription	Brain Hippocampus Middle	brain
24	chr2:97367400-97380200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:97367400-97382600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:97367600-97375000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:97367600-97378600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:97367600-97381000	Strong transcription	HepG2	liver
29	chr2:97367800-97374800	Strong transcription	Spleen	Spleen
30	chr2:97367800-97375000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:97367800-97375000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:97367800-97378000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:97367800-97378800	Strong transcription	Lung	lung
34	chr2:97367800-97379000	Strong transcription	Rectal Smooth Muscle	rectum
35	chr2:97367800-97379400	Strong transcription	Right Ventricle	heart
36	chr2:97367800-97379800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr2:97367800-97380000	Strong transcription	Liver	Liver
38	chr2:97367800-97380200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:97367800-97382800	Strong transcription	Brain Anterior Caudate	brain
40	chr2:97368000-97372600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:97368000-97375200	Strong transcription	Thymus	Thymus
42	chr2:97368000-97379600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr2:97368000-97380200	Strong transcription	Ovary	ovary
44	chr2:97368200-97375200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:97368200-97376400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:97368200-97379200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:97368200-97379400	Strong transcription	Placenta	Placenta
48	chr2:97368200-97382600	Strong transcription	Fetal Thymus	thymus
49	chr2:97368400-97371600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:97368400-97377800	Strong transcription	NHLF	lung

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