Variant report

Variant	rs13403335
Chromosome Location	chr2:188443092-188443093
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:263068..264963-chr2:188441341..188443685,2	MCF-7	breast:
2	chr2:188363780..188367877-chr2:188441342..188445875,5	MCF-7	breast:
3	chr16:73088044..73089636-chr2:188441847..188444162,2	MCF-7	breast:
4	chr2:188440946..188443688-chr2:188443875..188445768,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000035115	Chromatin interaction
ENSG00000143727	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10168929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10208660	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10221647	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10439309	1.00[AMR][1000 genomes]
rs13396262	0.82[AFR][1000 genomes]
rs13396869	1.00[AMR][1000 genomes]
rs13405040	1.00[AMR][1000 genomes]
rs13412597	1.00[AMR][1000 genomes]
rs13419272	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs13422718	1.00[AMR][1000 genomes]
rs28475020	1.00[AMR][1000 genomes]
rs6723440	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723480	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176438	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176451	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176458	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176465	1.00[AMR][1000 genomes]
rs8176483	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176486	0.85[AFR][1000 genomes]
rs8176515	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs9808448	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv2757845	chr2:188380042-188503185	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv2759108	chr2:188380042-188503185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv875581	chr2:188390819-188521234	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875582	chr2:188395700-188508011	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv875583	chr2:188395700-188521234	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv875584	chr2:188414161-188500930	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875585	chr2:188424525-188626214	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv584039	chr2:188435643-188482933	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188419400-188445400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:188440000-188445600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:188440200-188445200	Weak transcription	NH-A	brain
4	chr2:188440400-188445200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:188440400-188445200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:188440400-188445200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:188440400-188445600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:188440600-188445200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:188440600-188445200	Weak transcription	Adipose Nuclei	Adipose
10	chr2:188440600-188445600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:188440600-188445600	Weak transcription	HSMM	muscle
12	chr2:188440800-188444800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:188440800-188445200	Weak transcription	NHDF-Ad	bronchial
14	chr2:188440800-188445600	Weak transcription	Fetal Kidney	kidney
15	chr2:188441000-188445000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:188441000-188445200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:188441000-188445200	Weak transcription	Small Intestine	intestine
18	chr2:188441000-188445200	Weak transcription	NHLF	lung
19	chr2:188441000-188445600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:188441800-188445600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:188442000-188445000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:188442000-188445200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:188442000-188445200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:188442000-188445600	Weak transcription	Fetal Lung	lung
25	chr2:188442200-188443200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:188442200-188445200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:188442200-188445600	Weak transcription	Stomach Mucosa	stomach
28	chr2:188442400-188445000	Weak transcription	A549	lung
29	chr2:188442400-188445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:188442400-188445200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:188442400-188445200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:188442400-188445200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:188442400-188445200	Weak transcription	Fetal Intestine Large	intestine
34	chr2:188442400-188445200	Weak transcription	Fetal Intestine Small	intestine
35	chr2:188442400-188445200	Weak transcription	Psoas Muscle	Psoas
36	chr2:188442400-188445200	Weak transcription	HepG2	liver
37	chr2:188442400-188445200	Weak transcription	HUVEC	blood vessel
38	chr2:188442400-188445200	Weak transcription	Osteobl	bone
39	chr2:188442400-188445400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:188442400-188445400	Weak transcription	Liver	Liver
41	chr2:188442400-188445600	Weak transcription	Aorta	Aorta
42	chr2:188442400-188445600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:188442400-188450800	Weak transcription	Hela-S3	cervix
44	chr2:188442600-188445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:188442600-188445600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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