Variant report

Variant	rs16974848
Chromosome Location	chr19:37830190-37830191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37828910..37830448-chr19:37861835..37863631,2	MCF-7	breast:
2	chr19:37824652..37827295-chr19:37827971..37830773,4	MCF-7	breast:
3	chr19:37825393..37827148-chr19:37828758..37831597,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181666	Chromatin interaction
ENSG00000189164	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1016291	0.84[ASN][1000 genomes]
rs11666602	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11667853	0.96[ASN][1000 genomes]
rs11672033	0.96[ASN][1000 genomes]
rs16973130	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs16973541	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2216690	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34169829	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34809375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4452074	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs61741499	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7259638	0.96[ASN][1000 genomes]
rs8106641	0.96[ASN][1000 genomes]
rs8112900	0.84[ASN][1000 genomes]
rs868096	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37826200-37853200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37826400-37831800	Weak transcription	Ovary	ovary
3	chr19:37826400-37832800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:37826400-37834600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:37826400-37835200	Weak transcription	Aorta	Aorta
6	chr19:37826400-37837800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:37826400-37838200	Weak transcription	HUVEC	blood vessel
8	chr19:37826600-37832000	Weak transcription	Primary B cells from cord blood	blood
9	chr19:37826600-37832000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr19:37826600-37832200	Weak transcription	NH-A	brain
11	chr19:37826600-37834200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:37826600-37834400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:37826600-37834800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr19:37826600-37835600	Weak transcription	Osteobl	bone
15	chr19:37826600-37838000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:37826600-37848800	Weak transcription	Small Intestine	intestine
17	chr19:37826600-37856200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:37826600-37861600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr19:37826800-37830600	Weak transcription	Fetal Intestine Small	intestine
20	chr19:37826800-37830800	Weak transcription	Fetal Intestine Large	intestine
21	chr19:37826800-37831200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr19:37826800-37831800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:37826800-37831800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:37826800-37831800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr19:37826800-37831800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr19:37826800-37832000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:37826800-37832000	Weak transcription	Thymus	Thymus
28	chr19:37826800-37832400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr19:37826800-37833800	Weak transcription	Adipose Nuclei	Adipose
30	chr19:37826800-37834400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:37826800-37834600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:37826800-37834800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr19:37826800-37835000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:37826800-37836200	Weak transcription	Gastric	stomach
35	chr19:37826800-37838000	Weak transcription	Psoas Muscle	Psoas
36	chr19:37826800-37846600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr19:37826800-37847000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:37826800-37852600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:37826800-37853400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:37827000-37831000	Weak transcription	Fetal Stomach	stomach
41	chr19:37827000-37831800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:37827000-37831800	Weak transcription	NHEK	skin
43	chr19:37827000-37832000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr19:37827000-37832000	Weak transcription	Fetal Lung	lung
45	chr19:37827000-37832200	Weak transcription	Primary T cells from cord blood	blood
46	chr19:37827000-37832200	Weak transcription	Brain Germinal Matrix	brain
47	chr19:37827000-37832200	Weak transcription	NHDF-Ad	bronchial
48	chr19:37827000-37834400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:37827000-37834400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:37827000-37834600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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