Variant report

Variant	rs13392306
Chromosome Location	chr2:99350358-99350359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99346676..99348606-chr2:99349694..99353065,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10177696	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10194177	0.82[AMR][1000 genomes]
rs10210711	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1514916	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs41445250	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58666702	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6740656	0.80[AMR][1000 genomes]
rs7420869	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv535836	chr2:99329084-99353519	Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535837	chr2:99329084-99358356	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv535838	chr2:99335416-99358356	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99348400-99352600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:99348400-99352600	Weak transcription	Small Intestine	intestine
3	chr2:99348400-99367000	Weak transcription	Esophagus	oesophagus
4	chr2:99348600-99353000	Weak transcription	NHEK	skin
5	chr2:99348600-99359200	Weak transcription	Aorta	Aorta
6	chr2:99348800-99350800	Weak transcription	Thymus	Thymus
7	chr2:99348800-99351800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:99348800-99352600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:99348800-99353000	Weak transcription	HMEC	breast
10	chr2:99348800-99360600	Weak transcription	Lung	lung
11	chr2:99349000-99350800	Weak transcription	GM12878-XiMat	blood
12	chr2:99349000-99351400	Weak transcription	Brain Anterior Caudate	brain
13	chr2:99349000-99351400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:99349000-99351400	Weak transcription	Stomach Mucosa	stomach
15	chr2:99349200-99350400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:99349200-99350600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr2:99349200-99350600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:99349200-99350600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:99349200-99350600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:99349200-99350600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:99349200-99350800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:99349200-99350800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:99349200-99350800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:99349200-99351400	Weak transcription	Psoas Muscle	Psoas
25	chr2:99349200-99357200	Enhancers	HepG2	liver
26	chr2:99349400-99350600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr2:99349400-99350600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:99349400-99350800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr2:99349400-99350800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:99349400-99350800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr2:99349400-99350800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:99349400-99351400	Weak transcription	Spleen	Spleen
33	chr2:99349400-99352600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:99349400-99353800	Weak transcription	Pancreas	Pancrea
35	chr2:99349400-99355800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:99349600-99350600	Weak transcription	Fetal Intestine Large	intestine
37	chr2:99349600-99350800	Weak transcription	Fetal Intestine Small	intestine
38	chr2:99349600-99350800	Enhancers	Dnd41	blood
39	chr2:99349600-99351000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:99349800-99350400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:99349800-99350400	Weak transcription	HUVEC	blood vessel
42	chr2:99349800-99350600	Enhancers	Primary T cells from cord blood	blood
43	chr2:99349800-99351000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:99349800-99355200	Enhancers	Fetal Thymus	thymus
45	chr2:99350000-99350400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:99350000-99350600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr2:99350000-99351400	Weak transcription	Colonic Mucosa	Colon
48	chr2:99350000-99351800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr2:99350200-99351600	Enhancers	Primary B cells from cord blood	blood
50	chr2:99350200-99351800	Enhancers	Primary monocytes fromperipheralblood	blood

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