Variant report

Variant	rs7249016
Chromosome Location	chr19:37349968-37349969
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37341026..37342586-chr19:37347410..37350051,2	MCF-7	breast:
2	chr19:37341751..37343883-chr19:37348520..37351258,2	K562	blood:
3	chr19:37341751..37345172-chr19:37348520..37351258,3	K562	blood:

Variant related genes	Relation type
ENSG00000197863	Chromatin interaction
ENSG00000251247	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12463012	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs58571457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7247084	0.81[AFR][1000 genomes]
rs7249261	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7251580	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7253894	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7256405	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7257651	0.87[AFR][1000 genomes]
rs7259042	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8101749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	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
6	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
17	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	esv3354270	chr19:37309161-37364929	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
20	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
21	nsv458569	chr19:37331614-37412887	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv579462	chr19:37331614-37412887	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37342800-37353800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:37342800-37353800	Weak transcription	HUVEC	blood vessel
3	chr19:37342800-37355000	Weak transcription	Osteobl	bone
4	chr19:37342800-37356800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:37343000-37351400	Weak transcription	Right Ventricle	heart
6	chr19:37343400-37352600	ZNF genes & repeats	Fetal Brain Female	brain
7	chr19:37343400-37356000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:37343600-37358600	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr19:37343600-37359000	ZNF genes & repeats	Fetal Lung	lung
10	chr19:37344000-37350000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:37344200-37350400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:37344400-37356000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr19:37344400-37369400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:37344400-37371600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:37344400-37406400	ZNF genes & repeats	Liver	Liver
16	chr19:37344600-37352200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:37344600-37371600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr19:37345000-37356000	ZNF genes & repeats	Fetal Intestine Large	intestine
19	chr19:37345200-37353800	Weak transcription	Fetal Heart	heart
20	chr19:37345400-37353600	Weak transcription	HSMMtube	muscle
21	chr19:37345600-37350800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr19:37346000-37350200	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr19:37346200-37350000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
24	chr19:37346400-37356200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr19:37346400-37404600	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr19:37346600-37350000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr19:37346600-37350000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
28	chr19:37346600-37350200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
29	chr19:37346600-37350200	ZNF genes & repeats	Fetal Muscle Leg	muscle
30	chr19:37346600-37352400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:37346600-37372400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr19:37347000-37350800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:37347000-37351000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:37347000-37353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:37347000-37353800	Weak transcription	HSMM	muscle
36	chr19:37347200-37350800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:37347400-37353600	Weak transcription	Placenta	Placenta
38	chr19:37347800-37350600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr19:37347800-37350800	Weak transcription	Psoas Muscle	Psoas
40	chr19:37347800-37351400	Weak transcription	Colon Smooth Muscle	Colon
41	chr19:37348000-37351200	Weak transcription	NHDF-Ad	bronchial
42	chr19:37348000-37353600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:37348400-37350000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr19:37348400-37350000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
45	chr19:37348400-37351200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:37348400-37352400	ZNF genes & repeats	Primary T cells from cord blood	blood
47	chr19:37348600-37350200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:37348600-37355600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
49	chr19:37348800-37351000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:37348800-37351400	Weak transcription	Brain Substantia Nigra	brain

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