Variant report

Variant	rs3786831
Chromosome Location	chr19:39052512-39052513
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	chr19:39051200..39053700-chr19:39108218..39109845,2	MCF-7	breast:
2	chr19:39052301..39053811-chr19:39058922..39061870,2	K562	blood:

Variant related genes	Relation type
ENSG00000104814	Chromatin interaction
ENSG00000178982	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12462949	1.00[EUR][1000 genomes]
rs17722057	1.00[EUR][1000 genomes]
rs17795079	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv833824	chr19:38914618-39084758	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv911665	chr19:38924814-39101879	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv1058902	chr19:39025940-39078574	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1064490	chr19:39029788-39078574	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38985200-39081800	Weak transcription	Psoas Muscle	Psoas
2	chr19:39030000-39054600	Strong transcription	Fetal Muscle Leg	muscle
3	chr19:39030200-39055200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr19:39035200-39052600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:39035200-39066400	Strong transcription	Skeletal Muscle Male	skeletal muscle
6	chr19:39036000-39076400	Weak transcription	Brain Substantia Nigra	brain
7	chr19:39040000-39054600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:39045000-39055600	Weak transcription	Right Atrium	heart
9	chr19:39049600-39053000	Enhancers	Primary B cells from peripheral blood	blood
10	chr19:39049800-39052800	Enhancers	HMEC	breast
11	chr19:39049800-39054600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr19:39050000-39053200	Enhancers	NHEK	skin
13	chr19:39050600-39053600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:39050600-39054000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr19:39050800-39055400	Weak transcription	A549	lung
16	chr19:39051000-39053000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:39051000-39053800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr19:39051000-39056200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr19:39051200-39052800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:39051200-39053800	Enhancers	GM12878-XiMat	blood
21	chr19:39051200-39055400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:39051200-39055600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:39051600-39053800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr19:39051600-39066400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:39051800-39052800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:39051800-39053400	Strong transcription	Brain Anterior Caudate	brain
27	chr19:39051800-39053800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:39051800-39053800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:39051800-39053800	Enhancers	Esophagus	oesophagus
30	chr19:39051800-39055400	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr19:39051800-39055400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr19:39051800-39056200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr19:39051800-39056400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:39052000-39053200	Strong transcription	Brain Hippocampus Middle	brain
35	chr19:39052000-39053600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:39052000-39053800	Strong transcription	Brain Cingulate Gyrus	brain
37	chr19:39052000-39054000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr19:39052000-39055000	Strong transcription	HSMMtube	muscle
39	chr19:39052000-39055200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:39052000-39055400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:39052200-39054600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:39052200-39055200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr19:39052400-39052800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:39052400-39052800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:39052400-39052800	Enhancers	Spleen	Spleen
46	chr19:39052400-39053200	Strong transcription	Brain Angular Gyrus	brain
47	chr19:39052400-39053200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr19:39052400-39053400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:39052400-39053600	Active TSS	Gastric	stomach

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