Variant report

Variant	rs12030642
Chromosome Location	chr1:174273510-174273511
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1001803	chr1:174176164-174367747	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1008993	chr1:174180019-174331358	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv872553	chr1:174195629-174373379	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv872554	chr1:174209978-174291950	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1010069	chr1:174215293-174539512	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	esv1795045	chr1:174273004-174346276	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr1:174242800-174277200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:174243800-174275800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:174244400-174274000	Weak transcription	Fetal Heart	heart
4	chr1:174246200-174284200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:174251200-174275800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:174251400-174276000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:174259600-174276200	Weak transcription	Brain Anterior Caudate	brain
8	chr1:174259600-174277800	Weak transcription	K562	blood
9	chr1:174259800-174273800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:174259800-174274000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:174260200-174274000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:174260200-174275800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:174260400-174276200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:174260400-174277200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:174260600-174275600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:174262000-174274000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:174264800-174275400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:174270600-174274000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:174270600-174275400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:174270600-174279200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:174270800-174274000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:174270800-174274000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:174270800-174274000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:174270800-174274000	Weak transcription	Fetal Intestine Large	intestine
25	chr1:174270800-174274200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:174270800-174274200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:174270800-174274200	Weak transcription	Left Ventricle	heart
28	chr1:174270800-174274200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:174270800-174275600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:174270800-174275800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:174270800-174276600	Weak transcription	Esophagus	oesophagus
32	chr1:174270800-174276800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:174270800-174281400	Weak transcription	Right Ventricle	heart
34	chr1:174270800-174284200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:174270800-174285800	Weak transcription	Aorta	Aorta
36	chr1:174270800-174289800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:174271000-174274000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:174271000-174274000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:174271000-174274600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:174271000-174275800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:174271000-174276200	Weak transcription	Adipose Nuclei	Adipose
42	chr1:174271000-174276800	Weak transcription	Thymus	Thymus
43	chr1:174271000-174279400	Weak transcription	Fetal Stomach	stomach
44	chr1:174271000-174286400	Weak transcription	Spleen	Spleen
45	chr1:174271200-174274000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:174271200-174274000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:174271200-174274000	Weak transcription	Pancreas	Pancrea
48	chr1:174271200-174274200	Weak transcription	Primary T cells from cord blood	blood
49	chr1:174271200-174274200	Weak transcription	Ovary	ovary
50	chr1:174271200-174274400	Weak transcription	Fetal Intestine Small	intestine

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