Variant report

Variant	rs193228052
Chromosome Location	chr1:169968989-169968990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1012520	chr1:169899427-169969444	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1010370	chr1:169917450-169980951	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169904000-170010400	Weak transcription	Aorta	Aorta
2	chr1:169914800-169984000	Weak transcription	Left Ventricle	heart
3	chr1:169914800-169984800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:169914800-169988800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:169922000-169984000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:169922400-169996400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:169944800-169989600	Weak transcription	Thymus	Thymus
8	chr1:169945800-169975000	Weak transcription	GM12878-XiMat	blood
9	chr1:169951600-170011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:169951800-169975000	Weak transcription	Dnd41	blood
11	chr1:169951800-169975200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:169951800-169984800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:169952000-169983200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:169952000-169984600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:169952000-169985200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:169952000-170018000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:169952200-169983000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:169952400-169983000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:169952400-169984600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:169952600-169975400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:169952600-169984800	Weak transcription	Fetal Intestine Large	intestine
23	chr1:169955000-169984800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:169955600-169984800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:169956800-169997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:169960800-169970800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:169960800-169975000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:169966600-169984600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:169966800-169984600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:169966800-169984800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:169967200-169971400	Enhancers	NHDF-Ad	bronchial
32	chr1:169967200-169971600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:169967400-169969000	Enhancers	HSMM	muscle
34	chr1:169967400-169969400	Enhancers	Hela-S3	cervix
35	chr1:169967400-169969400	Enhancers	HMEC	breast
36	chr1:169967400-169969400	Enhancers	NHLF	lung
37	chr1:169967600-169969000	Enhancers	Fetal Lung	lung
38	chr1:169967600-169969400	Enhancers	Brain Germinal Matrix	brain
39	chr1:169967600-170013000	Weak transcription	Fetal Heart	heart
40	chr1:169967800-169969600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:169968000-169969000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:169968000-169969000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:169968000-169969000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:169968000-169969000	Enhancers	Brain Anterior Caudate	brain
45	chr1:169968000-169969000	Enhancers	Fetal Stomach	stomach
46	chr1:169968000-169969000	Enhancers	HUVEC	blood vessel
47	chr1:169968000-169969200	Enhancers	Brain Substantia Nigra	brain
48	chr1:169968000-169969400	Enhancers	Brain Cingulate Gyrus	brain
49	chr1:169968000-169969400	Enhancers	Duodenum Mucosa	Duodenum
50	chr1:169968000-169969800	Enhancers	Cortex derived primary cultured neurospheres	brain

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