Variant report

Variant	rs16975124
Chromosome Location	chr19:41782696-41782697
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	chr19:41768535..41773043-chr19:41782626..41787574,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105323	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10414612	1.00[TSI][hapmap]
rs1051008	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11466349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11879562	0.84[LWK][hapmap]
rs12327659	0.80[LWK][hapmap]
rs12983047	0.87[YRI][hapmap]
rs16959007	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16975156	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16975164	1.00[ASW][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1968453	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217656	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2304230	0.84[LWK][hapmap]
rs3745295	0.80[LWK][hapmap]
rs3810173	0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3826715	0.82[ASN][1000 genomes]
rs61247776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7246896	0.82[CHB][hapmap]
rs7249554	1.00[TSI][hapmap]
rs747857	0.91[ASW][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8105161	0.87[YRI][hapmap]
rs9304592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998468	0.91[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv17637	chr19:41770228-41815282	Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41772800-41794400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
2	chr19:41773000-41802400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:41773000-41804000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr19:41773200-41794400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr19:41773200-41794600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:41773200-41802200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:41773200-41814400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:41773400-41783000	Strong transcription	Fetal Kidney	kidney
9	chr19:41773400-41788000	Strong transcription	Brain Cingulate Gyrus	brain
10	chr19:41773400-41788400	Strong transcription	Primary hematopoietic stem cells	blood
11	chr19:41773400-41788600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:41773400-41792600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:41773400-41793200	Strong transcription	Brain Anterior Caudate	brain
14	chr19:41773400-41794400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr19:41773400-41794600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:41773400-41802200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr19:41773400-41802200	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr19:41773600-41788000	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr19:41773600-41788400	Strong transcription	Esophagus	oesophagus
20	chr19:41773600-41792600	Strong transcription	Rectal Smooth Muscle	rectum
21	chr19:41773600-41792800	Strong transcription	Colonic Mucosa	Colon
22	chr19:41773600-41793400	Strong transcription	K562	blood
23	chr19:41773600-41793400	Strong transcription	NH-A	brain
24	chr19:41773600-41793600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr19:41773600-41801400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:41773600-41801800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:41773600-41802200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr19:41773600-41802200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:41773600-41802200	Strong transcription	Placenta	Placenta
30	chr19:41773600-41802200	Strong transcription	HSMM	muscle
31	chr19:41773600-41802800	Weak transcription	Right Atrium	heart
32	chr19:41773600-41803400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:41773600-41804400	Strong transcription	Thymus	Thymus
34	chr19:41773600-41812600	Strong transcription	A549	lung
35	chr19:41773800-41787800	Strong transcription	Fetal Lung	lung
36	chr19:41773800-41788000	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr19:41773800-41788000	Strong transcription	Brain Angular Gyrus	brain
38	chr19:41773800-41788000	Strong transcription	Brain Hippocampus Middle	brain
39	chr19:41773800-41788600	Strong transcription	NHDF-Ad	bronchial
40	chr19:41773800-41790800	Strong transcription	HepG2	liver
41	chr19:41773800-41793800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:41773800-41794600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:41773800-41798400	Strong transcription	Adipose Nuclei	Adipose
44	chr19:41773800-41800200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr19:41773800-41800200	Strong transcription	Fetal Intestine Large	intestine
46	chr19:41773800-41800200	Strong transcription	Fetal Intestine Small	intestine
47	chr19:41773800-41801400	Strong transcription	HMEC	breast
48	chr19:41773800-41801600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:41773800-41801600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:41773800-41801600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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