Variant report

Variant	rs10196218
Chromosome Location	chr2:99327311-99327312
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99320303..99322866-chr2:99324363..99327818,3	MCF-7	breast:
2	chr2:99324587..99327520-chr2:99346109..99348267,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6706340	0.84[CHB][hapmap];0.84[CHD][hapmap]
rs6712079	0.80[ASN][1000 genomes]
rs6737760	0.84[CHB][hapmap]
rs6743770	0.86[ASN][1000 genomes]
rs7577636	0.84[CHB][hapmap];0.87[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv2841	chr2:99296874-99342362	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10196218	TSGA10	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99303200-99336400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:99316600-99336400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:99319200-99336800	Weak transcription	Spleen	Spleen
4	chr2:99320600-99327600	Weak transcription	Thymus	Thymus
5	chr2:99321000-99336200	Weak transcription	Fetal Stomach	stomach
6	chr2:99321200-99335000	Weak transcription	Lung	lung
7	chr2:99321600-99336600	Weak transcription	Fetal Kidney	kidney
8	chr2:99322000-99332600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:99322000-99334000	Weak transcription	Dnd41	blood
10	chr2:99322000-99336800	Weak transcription	Colonic Mucosa	Colon
11	chr2:99322200-99336200	Weak transcription	Fetal Intestine Large	intestine
12	chr2:99322800-99327600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:99323400-99327400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:99324200-99336600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:99325000-99328600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:99325000-99328800	Enhancers	HUVEC	blood vessel
17	chr2:99325200-99328400	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:99325400-99331000	Enhancers	Primary B cells from peripheral blood	blood
19	chr2:99325400-99333400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr2:99325600-99329600	Enhancers	Fetal Thymus	thymus
21	chr2:99325600-99336800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:99325800-99328200	Weak transcription	Left Ventricle	heart
23	chr2:99325800-99328400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:99325800-99334200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:99326000-99327600	Enhancers	Right Ventricle	heart
26	chr2:99326200-99328400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr2:99326400-99328200	Weak transcription	Pancreas	Pancrea
28	chr2:99326400-99330200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:99326400-99336000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr2:99326400-99336800	Weak transcription	Aorta	Aorta
31	chr2:99326400-99342600	Weak transcription	Adipose Nuclei	Adipose
32	chr2:99326400-99343600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:99326400-99346400	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:99326600-99327600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:99326600-99327600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr2:99326600-99328400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr2:99326600-99330000	Weak transcription	Stomach Mucosa	stomach
38	chr2:99326600-99330800	Enhancers	Primary T cells fromperipheralblood	blood
39	chr2:99326600-99334200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:99326600-99336800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:99326600-99336800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:99326600-99336800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:99326600-99340000	Weak transcription	Brain Angular Gyrus	brain
44	chr2:99326800-99327400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr2:99326800-99327600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr2:99326800-99328000	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr2:99326800-99328000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:99326800-99328800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:99326800-99330600	Weak transcription	HepG2	liver
50	chr2:99326800-99330800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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