Variant report

Variant	rs7250331
Chromosome Location	chr19:38246625-38246626
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs241948	1.00[YRI][hapmap]
rs7254828	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38230800-38251400	Weak transcription	Pancreas	Pancrea
2	chr19:38230800-38252600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:38230800-38259800	Weak transcription	Fetal Thymus	thymus
4	chr19:38231000-38246800	Weak transcription	Brain Germinal Matrix	brain
5	chr19:38231000-38250400	Weak transcription	Brain Substantia Nigra	brain
6	chr19:38231000-38258200	Weak transcription	Brain Anterior Caudate	brain
7	chr19:38231000-38258400	Weak transcription	Fetal Kidney	kidney
8	chr19:38231000-38258800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:38231000-38260400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:38231400-38250600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr19:38231400-38255800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr19:38231400-38259400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:38231400-38259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:38231800-38253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:38231800-38257600	Weak transcription	HSMM	muscle
16	chr19:38231800-38258200	Weak transcription	HSMMtube	muscle
17	chr19:38231800-38269200	Weak transcription	Fetal Brain Male	brain
18	chr19:38232200-38250600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr19:38232200-38253000	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:38232400-38252000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr19:38232400-38253600	Weak transcription	Right Ventricle	heart
22	chr19:38232400-38254000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:38232400-38255600	Weak transcription	Psoas Muscle	Psoas
24	chr19:38232400-38256600	Weak transcription	Dnd41	blood
25	chr19:38235200-38250600	Weak transcription	Gastric	stomach
26	chr19:38235200-38253200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:38235400-38251400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:38235400-38252800	Weak transcription	Brain Hippocampus Middle	brain
29	chr19:38235600-38250800	Weak transcription	Fetal Stomach	stomach
30	chr19:38235600-38251400	Weak transcription	Fetal Muscle Leg	muscle
31	chr19:38236400-38269400	Weak transcription	Aorta	Aorta
32	chr19:38236600-38249000	Weak transcription	Fetal Intestine Small	intestine
33	chr19:38236600-38250400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:38236600-38250400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:38237000-38260400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr19:38237400-38252600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:38237400-38252800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:38237800-38246800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:38238400-38250600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:38238400-38250600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr19:38238800-38249200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:38238800-38251800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr19:38238800-38253200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:38238800-38253200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:38238800-38254000	Weak transcription	Fetal Brain Female	brain
46	chr19:38238800-38269400	Weak transcription	Small Intestine	intestine
47	chr19:38239000-38252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:38239000-38253600	Weak transcription	Fetal Intestine Large	intestine
49	chr19:38239000-38269400	Weak transcription	Colonic Mucosa	Colon
50	chr19:38239400-38250600	Weak transcription	Ovary	ovary

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