Variant report

Variant	rs6666867
Chromosome Location	chr1:151527359-151527360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151527320-151527478	ProgFib	skin:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	1:151516085-151535167..1:151592347-151603110	GM12878	blood:
2	chr1:151526616..151529320-chr1:151540801..151542682,2	MCF-7	breast:
3	1:151402394-151411623..1:151516085-151535167	GM12878	blood:
4	chr1:151525489..151528201-chr1:151689463..151691011,2	MCF-7	breast:
5	1:151171193-151178589..1:151516085-151535167	GM12878	blood:
6	chr1:151526189..151529044-chr1:151534170..151536769,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223861	TF binding region
ENSG00000238711	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000143367	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6587599	0.89[AFR][1000 genomes]
rs7533032	0.97[AFR][1000 genomes]

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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv946387	chr1:151521876-151530261	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151514400-151540800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:151514400-151556800	Weak transcription	Fetal Brain Male	brain
3	chr1:151515600-151534400	Weak transcription	Brain Germinal Matrix	brain
4	chr1:151520200-151534200	Weak transcription	Fetal Stomach	stomach
5	chr1:151520200-151536600	Weak transcription	Ovary	ovary
6	chr1:151520400-151534200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:151520400-151535800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:151520400-151536600	Weak transcription	Adipose Nuclei	Adipose
9	chr1:151520400-151536800	Weak transcription	Aorta	Aorta
10	chr1:151520600-151536000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:151520600-151536800	Weak transcription	Lung	lung
12	chr1:151520600-151542000	Weak transcription	Right Ventricle	heart
13	chr1:151520600-151545200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:151520800-151535600	Weak transcription	Colonic Mucosa	Colon
15	chr1:151520800-151535600	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:151521600-151537800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:151521600-151538600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:151521800-151541800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:151521800-151559000	Weak transcription	Small Intestine	intestine
20	chr1:151522000-151533000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:151522000-151534200	Weak transcription	Pancreas	Pancrea
22	chr1:151522000-151534800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:151522000-151535000	Weak transcription	HSMMtube	muscle
24	chr1:151522000-151536600	Weak transcription	Esophagus	oesophagus
25	chr1:151522000-151537600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:151522200-151536200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:151522200-151537800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:151522200-151537800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:151522400-151534200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:151522400-151540800	Weak transcription	Stomach Mucosa	stomach
31	chr1:151522600-151534400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:151522600-151534600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:151522600-151536000	Weak transcription	Hela-S3	cervix
34	chr1:151522600-151536400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:151522800-151534200	Weak transcription	Fetal Intestine Large	intestine
36	chr1:151522800-151534400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:151522800-151536400	Weak transcription	HepG2	liver
38	chr1:151524200-151529800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:151524200-151530000	Weak transcription	Gastric	stomach
40	chr1:151524200-151537600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:151525000-151536600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:151526000-151528800	Weak transcription	Fetal Intestine Small	intestine
43	chr1:151526400-151528200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:151526400-151528800	Weak transcription	Placenta	Placenta
45	chr1:151526400-151531800	Weak transcription	A549	lung
46	chr1:151526400-151534200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:151526400-151536400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:151526400-151536600	Weak transcription	NHLF	lung
49	chr1:151526600-151529600	Weak transcription	NHEK	skin
50	chr1:151526600-151531800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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