Variant report

Variant	rs6672777
Chromosome Location	chr1:146640128-146640129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr1:146640061-146640700	SK-N-SH	brain:	n/a	n/a
2	FOS	chr1:146639712-146640591	MCF10A-Er-Src	breast:	n/a	n/a
3	NFIC	chr1:146640116-146640592	HepG2	liver:	n/a	chr1:146640299-146640316
4	FOXA1	chr1:146640073-146641075	HepG2	liver:	n/a	n/a
5	MYBL2	chr1:146640120-146640724	HepG2	liver:	n/a	n/a
6	FOXA1	chr1:146640066-146641130	HepG2	liver:	n/a	n/a
7	TEAD4	chr1:146640029-146641154	HepG2	liver:	n/a	n/a
8	EP300	chr1:146640098-146640646	HepG2	liver:	n/a	n/a
9	NFIC	chr1:146639950-146640688	SK-N-SH	brain:	n/a	chr1:146640299-146640316
10	NFIC	chr1:146640024-146640721	HepG2	liver:	n/a	chr1:146640299-146640316
11	FOXA2	chr1:146640064-146641244	HepG2	liver:	n/a	n/a
12	FOXA1	chr1:146640053-146640680	HepG2	liver:	n/a	n/a
13	MYBL2	chr1:146640033-146640715	HepG2	liver:	n/a	n/a
14	MBD4	chr1:146640113-146640734	HepG2	liver:	n/a	n/a
15	TCF12	chr1:146640006-146640688	SK-N-SH	brain:	n/a	n/a
16	ARID3A	chr1:146640035-146641006	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146625986..146627688-chr1:146639409..146641762,2	K562	blood:
2	chr1:146639513..146641119-chr1:146727207..146729004,2	MCF-7	breast:
3	chr1:146638044..146647556-chr1:146707628..146717159,48	MCF-7	breast:
4	chr1:146638810..146641230-chr1:146647951..146649743,2	MCF-7	breast:
5	chr1:146638562..146647588-chr1:146711453..146720391,22	K562	blood:
6	chr1:146554115..146557849-chr1:146637949..146646936,17	MCF-7	breast:
7	chr1:146554089..146558005-chr1:146638440..146645674,16	K562	blood:
8	chr1:146580735..146583076-chr1:146639979..146642635,2	MCF-7	breast:
9	chr1:146628338..146632381-chr1:146638568..146643066,4	K562	blood:
10	chr1:146639294..146641009-chr1:146641764..146644028,3	K562	blood:
11	chr1:146637222..146651713-chr1:146712141..146718911,44	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273071	TF binding region
ENSG00000237188	TF binding region
ENSG00000131781	Chromatin interaction
ENSG00000230832	Chromatin interaction
ENSG00000180867	Chromatin interaction
ENSG00000131778	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28381213	1.00[AFR][1000 genomes]
rs61704329	1.00[AFR][1000 genomes]
rs6692634	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757753	chr1:145883119-146697542	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
4	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
6	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS 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	110 gene(s)	inside rSNPs	diseases
7	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
8	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
10	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
15	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
16	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
17	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
18	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
19	nsv1009943	chr1:146618929-146893851	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
20	nsv535132	chr1:146618929-146893851	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh 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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146624600-146640400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:146624800-146642600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:146629800-146640200	Weak transcription	K562	blood
4	chr1:146630000-146641200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:146630800-146640200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:146631600-146642800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:146632000-146642400	Weak transcription	Colonic Mucosa	Colon
8	chr1:146632000-146642600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:146632200-146642400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:146632200-146642800	Weak transcription	Gastric	stomach
11	chr1:146632200-146643200	Weak transcription	Spleen	Spleen
12	chr1:146632400-146642000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:146632400-146642000	Weak transcription	Fetal Brain Male	brain
14	chr1:146632400-146642200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:146632600-146643000	Weak transcription	Lung	lung
16	chr1:146632800-146642400	Weak transcription	Fetal Kidney	kidney
17	chr1:146633000-146640400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:146633000-146641400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:146633200-146641400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:146633200-146641800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:146633400-146642400	Weak transcription	Thymus	Thymus
22	chr1:146633400-146642600	Weak transcription	Aorta	Aorta
23	chr1:146633600-146642200	Weak transcription	Left Ventricle	heart
24	chr1:146633600-146642400	Weak transcription	Psoas Muscle	Psoas
25	chr1:146633800-146642600	Weak transcription	Brain Substantia Nigra	brain
26	chr1:146634400-146642600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:146634400-146642600	Weak transcription	Fetal Thymus	thymus
28	chr1:146634600-146642000	Weak transcription	Right Ventricle	heart
29	chr1:146635400-146642400	Weak transcription	Brain Angular Gyrus	brain
30	chr1:146637600-146641400	Enhancers	Fetal Intestine Small	intestine
31	chr1:146637800-146640800	Weak transcription	GM12878-XiMat	blood
32	chr1:146638000-146641000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:146638000-146642400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:146638200-146640800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr1:146638200-146641200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:146638400-146641400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:146638400-146641400	Enhancers	HMEC	breast
38	chr1:146638400-146642400	Enhancers	Hela-S3	cervix
39	chr1:146638600-146640600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:146638600-146642000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:146638600-146642200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:146638600-146642200	Weak transcription	Adipose Nuclei	Adipose
43	chr1:146638600-146642200	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:146638600-146642200	Weak transcription	Pancreas	Pancrea
45	chr1:146638600-146642400	Enhancers	Fetal Intestine Large	intestine
46	chr1:146638600-146642800	Weak transcription	Esophagus	oesophagus
47	chr1:146638800-146640400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:146638800-146641200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:146638800-146641800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:146638800-146642200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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