Variant report

Variant	rs371928078
Chromosome Location	chr1:197716652-197716653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr1:197716400-197716738	GM12878	blood:	n/a	chr1:197716611-197716633
2	YY1	chr1:197716494-197716687	K562	blood:	n/a	chr1:197716611-197716633
3	YY1	chr1:197716467-197716743	GM12878	blood:	n/a	chr1:197716611-197716633
4	YY1	chr1:197716410-197716709	GM12891	blood:	n/a	chr1:197716611-197716633

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197715463..197718268-chr1:197744051..197746586,3	K562	blood:

Variant related genes	Relation type
FAM204BP	TF binding region
ENSG00000213047	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv947217	chr1:197716247-197729068	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197695800-197722000	Weak transcription	Fetal Lung	lung
2	chr1:197695800-197732800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:197695800-197742200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:197702800-197743800	Weak transcription	Esophagus	oesophagus
5	chr1:197703000-197718400	Weak transcription	Dnd41	blood
6	chr1:197706600-197729400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:197706800-197741800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:197708000-197716800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:197708000-197722600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:197708400-197719200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:197708400-197719200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:197708400-197721600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:197708400-197722800	Weak transcription	Lung	lung
14	chr1:197708400-197729800	Weak transcription	NHEK	skin
15	chr1:197708600-197719200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:197709600-197716800	Weak transcription	Psoas Muscle	Psoas
17	chr1:197709800-197718000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:197709800-197723000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:197710400-197724000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:197710600-197718800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:197710600-197722400	Weak transcription	Liver	Liver
22	chr1:197712000-197716800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:197712200-197716800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:197712200-197731000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:197712200-197741600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:197712200-197742000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:197712400-197717400	Weak transcription	Fetal Heart	heart
28	chr1:197713000-197732800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:197713000-197734000	Weak transcription	Fetal Thymus	thymus
30	chr1:197713200-197718400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:197713200-197720000	Weak transcription	Primary T cells from cord blood	blood
32	chr1:197713800-197733000	Weak transcription	Aorta	Aorta
33	chr1:197714200-197718400	Enhancers	K562	blood
34	chr1:197714400-197731600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:197714400-197743800	Weak transcription	Spleen	Spleen
36	chr1:197714600-197718200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:197714600-197718200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:197714600-197726400	Weak transcription	Right Ventricle	heart
39	chr1:197714600-197727400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:197714600-197729800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:197714600-197730000	Weak transcription	Primary B cells from cord blood	blood
42	chr1:197714600-197741600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:197714600-197742400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:197714600-197743600	Weak transcription	Ovary	ovary
45	chr1:197714800-197716800	Weak transcription	Fetal Intestine Small	intestine
46	chr1:197715000-197727200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:197715400-197719000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:197715400-197740000	Weak transcription	Left Ventricle	heart
49	chr1:197715400-197741800	Weak transcription	Gastric	stomach
50	chr1:197715600-197738400	Weak transcription	Pancreas	Pancrea

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