Variant report

Variant	rs58361269
Chromosome Location	chr2:97403110-97403111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97400480..97403268-chr2:97404276..97407590,3	MCF-7	breast:
2	chr2:97402906..97407899-chr2:97425229..97430147,10	MCF-7	breast:
3	chr2:97395572..97397109-chr2:97402603..97405008,2	K562	blood:

Variant related genes	Relation type
ENSG00000158158	Chromatin interaction
ENSG00000114988	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2271893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2314398	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4619651	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56351161	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56361249	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6746896	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67570263	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72809820	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72809827	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72809838	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7599624	0.86[ASN][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	chr2:97376000-97404000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:97378000-97403600	Weak transcription	Stomach Mucosa	stomach
4	chr2:97381000-97403800	Strong transcription	Fetal Muscle Leg	muscle
5	chr2:97381200-97404800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:97383000-97403800	Strong transcription	Fetal Stomach	stomach
7	chr2:97385400-97403400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:97385800-97403800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:97390400-97404000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr2:97390800-97403400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:97390800-97403600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:97391200-97403400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr2:97391400-97403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:97391600-97403200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:97391600-97403400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:97391600-97403600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:97391600-97403600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:97391600-97403800	Strong transcription	Fetal Thymus	thymus
19	chr2:97391600-97404000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:97392000-97403200	Strong transcription	A549	lung
21	chr2:97392000-97403800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:97392200-97403400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:97392400-97403400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:97392600-97403800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:97392800-97403400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr2:97393600-97403200	Strong transcription	Placenta	Placenta
27	chr2:97394200-97403200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:97396200-97403600	Weak transcription	Small Intestine	intestine
29	chr2:97396200-97403800	Strong transcription	HepG2	liver
30	chr2:97396400-97403600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:97397200-97403600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:97397400-97403600	Strong transcription	NHEK	skin
33	chr2:97398600-97403800	Strong transcription	Primary T cells from cord blood	blood
34	chr2:97399800-97403200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:97399800-97404800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:97399800-97404800	Weak transcription	Psoas Muscle	Psoas
37	chr2:97400000-97404000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:97400000-97404200	Weak transcription	NHDF-Ad	bronchial
39	chr2:97400000-97404800	Weak transcription	Fetal Kidney	kidney
40	chr2:97400200-97403600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:97400200-97403600	Weak transcription	Lung	lung
42	chr2:97400200-97403600	Weak transcription	Pancreas	Pancrea
43	chr2:97400200-97404800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:97400200-97404800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:97400400-97403600	Weak transcription	Spleen	Spleen
46	chr2:97400400-97403600	Weak transcription	HUVEC	blood vessel
47	chr2:97400400-97403600	Weak transcription	NHLF	lung
48	chr2:97400400-97404800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:97400400-97404800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:97400400-97404800	Weak transcription	Brain Substantia Nigra	brain

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