Variant report

Variant	rs13412203
Chromosome Location	chr2:99295489-99295490
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99293964..99295847-chr2:99346360..99348693,2	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]
rs10173578	0.89[AMR][1000 genomes]
rs10207277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207790	0.89[AMR][1000 genomes]
rs12328659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390230	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13397574	0.93[AMR][1000 genomes]
rs13425789	0.93[AMR][1000 genomes]
rs7586108	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[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	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	18 gene(s)	inside rSNPs	diseases
3	nsv582516	chr2:99254031-99304794	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99234600-99310600	Weak transcription	Small Intestine	intestine
2	chr2:99234800-99296400	Weak transcription	Esophagus	oesophagus
3	chr2:99249800-99318000	Weak transcription	Psoas Muscle	Psoas
4	chr2:99251400-99295600	Weak transcription	Fetal Stomach	stomach
5	chr2:99251600-99302000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:99251600-99306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:99255600-99306800	Weak transcription	Colonic Mucosa	Colon
8	chr2:99256400-99296000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:99264600-99299000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:99265600-99306600	Weak transcription	Lung	lung
11	chr2:99265800-99303800	Weak transcription	Brain Substantia Nigra	brain
12	chr2:99266200-99296200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:99266400-99304200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:99276000-99301400	Weak transcription	Aorta	Aorta
15	chr2:99278000-99296200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:99279200-99302200	Weak transcription	Right Ventricle	heart
17	chr2:99281400-99295600	Strong transcription	Dnd41	blood
18	chr2:99282800-99306600	Weak transcription	Left Ventricle	heart
19	chr2:99285200-99295600	Strong transcription	Fetal Thymus	thymus
20	chr2:99285200-99296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:99285800-99295600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:99286400-99301400	Weak transcription	Pancreas	Pancrea
23	chr2:99286800-99304800	Weak transcription	Gastric	stomach
24	chr2:99288000-99310000	Weak transcription	Thymus	Thymus
25	chr2:99289800-99296400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:99291400-99299800	Weak transcription	HUVEC	blood vessel
27	chr2:99291400-99302000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:99291600-99295800	Weak transcription	Primary B cells from cord blood	blood
29	chr2:99291600-99296600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:99291600-99302200	Weak transcription	Liver	Liver
31	chr2:99291600-99302200	Weak transcription	Brain Anterior Caudate	brain
32	chr2:99291600-99302200	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:99291800-99299000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:99292000-99296000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:99292000-99310400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:99292200-99298400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:99292200-99306600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:99292200-99312800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:99292400-99296400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:99293400-99325200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:99293800-99296000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:99293800-99300000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:99293800-99302000	Weak transcription	HepG2	liver
44	chr2:99294000-99300200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:99294000-99302000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:99294000-99304200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:99294200-99298000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:99294200-99300000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:99294200-99313600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:99294200-99315000	Weak transcription	Fetal Intestine Large	intestine

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