Variant report

Variant	rs8108180
Chromosome Location	chr19:19681045-19681046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19677983..19681463-chr19:19736578..19740981,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064547	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1036215	1.00[CHB][hapmap]
rs10421328	1.00[CHD][hapmap]
rs11669730	1.00[CHD][hapmap]
rs12003	1.00[LWK][hapmap];1.00[MEX][hapmap]
rs12977072	1.00[CHD][hapmap]
rs3752153	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7253821	1.00[CHD][hapmap]
rs8110126	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer 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	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19652000-19688400	Weak transcription	Right Atrium	heart
2	chr19:19652600-19686200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:19659200-19686200	Weak transcription	Fetal Brain Male	brain
4	chr19:19665600-19682400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:19665600-19685600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr19:19669400-19683200	Strong transcription	Fetal Stomach	stomach
7	chr19:19669400-19683600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:19671000-19686200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:19671200-19681800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:19671200-19686400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:19671200-19686400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:19671600-19681600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:19671600-19701800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr19:19672000-19704800	Weak transcription	Brain Angular Gyrus	brain
15	chr19:19672200-19682000	Strong transcription	Thymus	Thymus
16	chr19:19672400-19681600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr19:19672600-19682400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:19672800-19682000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr19:19673400-19682600	Weak transcription	Brain Hippocampus Middle	brain
20	chr19:19674200-19689200	Weak transcription	Brain Substantia Nigra	brain
21	chr19:19674200-19690600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr19:19674200-19690800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr19:19674200-19691000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:19674200-19699800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr19:19674400-19690600	Weak transcription	Stomach Mucosa	stomach
26	chr19:19675000-19682200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:19675400-19681600	Strong transcription	Primary T cells from cord blood	blood
28	chr19:19675400-19681600	Strong transcription	Brain Germinal Matrix	brain
29	chr19:19675400-19682400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:19675400-19682400	Strong transcription	Fetal Brain Female	brain
31	chr19:19675600-19682400	Weak transcription	Adipose Nuclei	Adipose
32	chr19:19676200-19701600	Weak transcription	GM12878-XiMat	blood
33	chr19:19677400-19681600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:19677800-19681400	Strong transcription	Fetal Lung	lung
35	chr19:19677800-19681600	Strong transcription	Dnd41	blood
36	chr19:19677800-19682000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:19678000-19681200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr19:19678000-19681800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr19:19678000-19681800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:19678000-19682000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:19678000-19682000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr19:19678200-19681600	Strong transcription	Brain Anterior Caudate	brain
43	chr19:19678200-19682000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr19:19678800-19682400	Weak transcription	Fetal Intestine Large	intestine
45	chr19:19678800-19686200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:19678800-19686200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:19678800-19693000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:19679200-19682600	Strong transcription	Spleen	Spleen
49	chr19:19679400-19681200	Strong transcription	Fetal Muscle Leg	muscle
50	chr19:19679400-19681400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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