Variant report

Variant	rs6661711
Chromosome Location	chr1:78562613-78562614
allele	G/T
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	POLR2A	chr1:78561202-78563637	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr1:78562562-78563104	HUVEC	blood vessel:	n/a	chr1:78562888-78562898 chr1:78562861-78562868 chr1:78562861-78562868 chr1:78562861-78562868 chr1:78562861-78562870 chr1:78562854-78562875 chr1:78562857-78562873

No.	Distal block	Cell Line	Cell type
1	chr1:78468333..78471378-chr1:78560977..78563691,3	K562	blood:
2	chr1:78467270..78470247-chr1:78561898..78563646,2	MCF-7	breast:
3	chr1:78468129..78475881-chr1:78555411..78565499,18	K562	blood:
4	chr1:78534416..78536701-chr1:78562290..78564731,2	K562	blood:

Variant related genes	Relation type
RNA5SP22	TF binding region
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11799343	1.00[ASW][hapmap]
rs74093214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7523750	1.00[ASW][hapmap]

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	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
5	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78535000-78566800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:78546600-78579800	Weak transcription	Liver	Liver
3	chr1:78553400-78567000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:78554800-78579800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:78555000-78563000	Weak transcription	HepG2	liver
6	chr1:78555400-78608600	Weak transcription	Pancreas	Pancrea
7	chr1:78557800-78569200	Weak transcription	Fetal Intestine Small	intestine
8	chr1:78558600-78582800	Weak transcription	Fetal Intestine Large	intestine
9	chr1:78559400-78563400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:78559800-78563800	Enhancers	HSMMtube	muscle
11	chr1:78560200-78563200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:78560200-78563400	Enhancers	Fetal Heart	heart
13	chr1:78560200-78563600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:78560200-78563600	Enhancers	Brain Substantia Nigra	brain
15	chr1:78560400-78563600	Enhancers	Osteobl	bone
16	chr1:78560600-78563000	Enhancers	NHEK	skin
17	chr1:78560600-78563400	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:78560600-78563400	Enhancers	HMEC	breast
19	chr1:78560600-78563400	Enhancers	NHDF-Ad	bronchial
20	chr1:78560600-78563600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:78560800-78563400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:78560800-78563400	Enhancers	Brain Angular Gyrus	brain
23	chr1:78560800-78563600	Enhancers	NHLF	lung
24	chr1:78560800-78563800	Enhancers	Brain Hippocampus Middle	brain
25	chr1:78560800-78566800	Weak transcription	Stomach Mucosa	stomach
26	chr1:78561000-78563600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:78561000-78564800	Enhancers	HSMM	muscle
28	chr1:78561200-78563200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:78561200-78563400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:78561200-78563600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:78561400-78563400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:78561600-78563400	Enhancers	Psoas Muscle	Psoas
33	chr1:78561800-78563400	Enhancers	Brain Anterior Caudate	brain
34	chr1:78561800-78563600	Enhancers	Fetal Muscle Leg	muscle
35	chr1:78562000-78563000	Weak transcription	Ovary	ovary
36	chr1:78562000-78563400	Enhancers	NH-A	brain
37	chr1:78562000-78564200	Enhancers	HUVEC	blood vessel
38	chr1:78562000-78564400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:78562000-78566400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:78562000-78566600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:78562400-78562800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:78562400-78563400	Enhancers	Left Ventricle	heart
43	chr1:78562400-78563600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr1:78562400-78563600	Enhancers	Right Ventricle	heart
45	chr1:78562400-78566800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:78562600-78562800	Enhancers	Right Atrium	heart
47	chr1:78562600-78562800	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr1:78562600-78563200	Enhancers	Small Intestine	intestine
49	chr1:78562600-78563400	Enhancers	Aorta	Aorta
50	chr1:78562600-78567000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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