Variant report

Variant	rs533316707
Chromosome Location	chr1:78521740-78521741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78467898..78473745-chr1:78517606..78523860,12	K562	blood:
2	chr1:78475214..78476782-chr1:78520610..78522238,2	K562	blood:
3	chr1:78521484..78522081-chr1:78580194..78580696,2	MCF-7	breast:
4	chr1:78520206..78525011-chr1:78526646..78528908,4	K562	blood:
5	chr1:78467898..78469708-chr1:78520081..78522686,2	K562	blood:
6	chr1:78516143..78520503-chr1:78521696..78523741,3	K562	blood:

Variant related genes	Relation type
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv870608	chr1:78520822-78594286	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78513000-78521800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:78515400-78534200	Weak transcription	HepG2	liver
3	chr1:78517400-78522000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:78519000-78536000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:78519200-78527000	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:78519800-78526800	Weak transcription	Psoas Muscle	Psoas
7	chr1:78520600-78522000	Enhancers	Pancreas	Pancrea
8	chr1:78520600-78522000	Enhancers	Spleen	Spleen
9	chr1:78520800-78521800	Enhancers	Right Ventricle	heart
10	chr1:78520800-78522000	Enhancers	Left Ventricle	heart
11	chr1:78520800-78523800	Weak transcription	Osteobl	bone
12	chr1:78520800-78524000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:78520800-78526600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:78520800-78526800	Weak transcription	HSMMtube	muscle
15	chr1:78521000-78524200	Weak transcription	HSMM	muscle
16	chr1:78521200-78521800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:78521200-78521800	Enhancers	Fetal Intestine Small	intestine
18	chr1:78521200-78521800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr1:78521200-78521800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:78521200-78522000	Active TSS	Adipose Nuclei	Adipose
21	chr1:78521200-78522200	Enhancers	Small Intestine	intestine
22	chr1:78521400-78521800	Flanking Active TSS	Liver	Liver
23	chr1:78521400-78521800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr1:78521400-78521800	Enhancers	Placenta	Placenta
25	chr1:78521400-78521800	Active TSS	Rectal Smooth Muscle	rectum
26	chr1:78521400-78521800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:78521400-78521800	Flanking Active TSS	HUVEC	blood vessel
28	chr1:78521400-78521800	Flanking Active TSS	K562	blood
29	chr1:78521400-78522000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:78521400-78522000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:78521400-78522000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr1:78521600-78521800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:78521600-78521800	Active TSS	Duodenum Mucosa	Duodenum
34	chr1:78521600-78522200	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr1:78521600-78526800	Weak transcription	Fetal Intestine Large	intestine
36	chr1:78521600-78526800	Weak transcription	Right Atrium	heart
37	chr1:78521600-78526800	Weak transcription	HMEC	breast
38	chr1:78521600-78534600	Weak transcription	Colonic Mucosa	Colon

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