Variant report

Variant	rs7248183
Chromosome Location	chr19:19215131-19215132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19214932..19216511-chr19:19243941..19245659,2	K562	blood:
2	chr19:19208308..19213964-chr19:19214081..19217541,6	K562	blood:
3	chr19:19215004..19217931-chr19:19737020..19738746,2	K562	blood:
4	chr19:19172859..19177096-chr19:19213191..19220004,7	K562	blood:
5	chr19:19170465..19178046-chr19:19213939..19220242,15	K562	blood:

Variant related genes	Relation type
ENSG00000064547	Chromatin interaction
ENSG00000181035	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10404879	1.00[MEX][hapmap]
rs10405178	1.00[YRI][hapmap]
rs10406282	1.00[MEX][hapmap]
rs10407260	1.00[MEX][hapmap]
rs10409265	1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs10409297	1.00[AMR][1000 genomes]
rs10409395	1.00[MEX][hapmap]
rs10413216	1.00[MEX][hapmap]
rs10414535	1.00[MEX][hapmap]
rs10414859	1.00[AMR][1000 genomes]
rs10415998	0.83[YRI][hapmap]
rs10416041	0.83[YRI][hapmap]
rs10416054	1.00[MEX][hapmap]
rs10420559	1.00[MEX][hapmap]
rs10422058	1.00[MEX][hapmap]
rs10423504	1.00[AMR][1000 genomes]
rs13344835	0.83[YRI][hapmap]
rs28445835	1.00[MEX][hapmap]
rs28475392	1.00[AMR][1000 genomes]
rs28477961	1.00[AMR][1000 genomes]
rs28699197	1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2872205	1.00[MEX][hapmap]
rs6511012	1.00[MEX][hapmap]
rs7252172	1.00[AMR][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	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19176400-19215200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:19176400-19215800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr19:19176400-19215800	Weak transcription	NHLF	lung
4	chr19:19177200-19215400	Weak transcription	Colonic Mucosa	Colon
5	chr19:19180200-19216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:19180400-19216400	Weak transcription	Colon Smooth Muscle	Colon
7	chr19:19180400-19219800	Weak transcription	HSMMtube	muscle
8	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:19185400-19221200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr19:19186800-19215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:19194600-19229400	Weak transcription	Dnd41	blood
13	chr19:19194800-19215400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:19197400-19222600	Weak transcription	GM12878-XiMat	blood
15	chr19:19199000-19216200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:19200800-19215800	Weak transcription	Right Atrium	heart
17	chr19:19201800-19215400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:19201800-19215600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:19203000-19215600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:19203800-19245600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr19:19205200-19216400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr19:19205800-19216200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:19206600-19229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:19206800-19215400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:19207600-19215800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:19207800-19215800	Weak transcription	Stomach Mucosa	stomach
27	chr19:19208400-19216200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:19208600-19221400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr19:19208800-19215800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:19209000-19223600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:19209400-19221000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:19210000-19216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr19:19210200-19230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:19210400-19215200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:19210400-19215600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr19:19211600-19216200	Weak transcription	Fetal Thymus	thymus
37	chr19:19211800-19215400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:19212200-19215200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr19:19212400-19215200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr19:19212400-19215400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr19:19212400-19215400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr19:19212400-19216200	Weak transcription	Adipose Nuclei	Adipose
43	chr19:19212400-19216200	Weak transcription	Left Ventricle	heart
44	chr19:19212400-19217800	Weak transcription	Primary T cells from cord blood	blood
45	chr19:19212400-19218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:19212400-19218400	Weak transcription	Brain Substantia Nigra	brain
47	chr19:19212400-19221000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:19212400-19221400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:19212600-19215600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr19:19212600-19215800	Weak transcription	Brain Anterior Caudate	brain

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