Variant report

Variant	rs28491006
Chromosome Location	chr8:8420738-8420739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr8:8420057-8420787	SK-N-SH	brain:	n/a	n/a
2	EP300	chr8:8420029-8420757	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr8:8420009-8420774	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr8:8420058-8420820	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr8:8419940-8420790	SK-N-SH	brain:	n/a	chr8:8420086-8420095 chr8:8420083-8420099 chr8:8420086-8420096 chr8:8420153-8420164

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:8420735-8420785	HNPCEpiC	eye:	n/a
2	chr8:8420735-8420785	HCT-116	colon:	n/a
3	chr8:8420735-8420785	SK-N-SH_RA	brain:	n/a
4	chr8:8420735-8420785	H1-hESC	embryonic stem cell:	embryo
5	chr8:8420735-8420785	NT2-D1	testis:	n/a
6	chr8:8420735-8420785	BJ	skin:	n/a
7	chr8:8420735-8420785	AG10803	skin:	n/a
8	chr8:8420735-8420785	HCPEpiC	choroid plexus:	n/a
9	chr8:8420735-8420785	SKMC	muscle:	n/a
10	chr8:8420735-8420785	SK-N-SH	brain:	n/a
11	chr8:8420735-8420785	HCF	heart:	n/a
12	chr8:8420735-8420785	GM12878	blood:	n/a
13	chr8:8420735-8420785	Jurkat	blood:	n/a
14	chr8:8420735-8420785	HPAEpiC	pulmonary alveolar:	n/a
15	chr8:8420735-8420785	NB4	blood:	n/a
16	chr8:8420735-8420785	HEK293	kidney:	embryo
17	chr8:8420735-8420785	HL-60	blood:	n/a
18	chr8:8420735-8420785	ProgFib	skin:	n/a
19	chr8:8420735-8420785	PFSK-1	brain:	n/a
20	chr8:8420735-8420785	AoSMC	blood vessel:	n/a
21	chr8:8420735-8420785	GM12892	blood:	n/a
22	chr8:8420735-8420785	BE2_C	brain:	n/a
23	chr8:8420735-8420785	RPTEC	kidney:	n/a
24	chr8:8420735-8420785	AG04450	lung:	fetal
25	chr8:8420735-8420785	GM06990	blood:	n/a
26	chr8:8420735-8420785	U87	brain:	n/a
27	chr8:8420735-8420785	AG09319	gingival:	n/a
28	chr8:8420735-8420785	NH-A	brain:	n/a
29	chr8:8420735-8420785	HCM	heart:	n/a
30	chr8:8420735-8420785	Hela-S3	cervix:	n/a
31	chr8:8420735-8420785	A549	lung:	n/a
32	chr8:8420735-8420785	PrEC	prostate:	n/a
33	chr8:8420735-8420785	HepG2	liver:	n/a
34	chr8:8420735-8420785	T-47D	breast:	n/a
35	chr8:8420735-8420785	Caco-2	colon:	n/a
36	chr8:8420735-8420785	ECC-1	luminal epithelium:	n/a
37	chr8:8420735-8420785	CMK	blood:	n/a
38	chr8:8420735-8420785	IMR90	lung:	fetal
39	chr8:8420735-8420785	NHBE	bronchial:	n/a
40	chr8:8420735-8420785	HRE	kidney:	n/a
41	chr8:8420735-8420785	K562	blood:	n/a
42	chr8:8420735-8420785	PANC-1	pancreas:	n/a
43	chr8:8420735-8420785	HAEpiC	amniotic membrane:	n/a
44	chr8:8420735-8420785	HMEC	breast:	n/a
45	chr8:8420735-8420785	MCF-7	breast:	n/a
46	chr8:8420735-8420785	HIPEpiC	eye:	n/a
47	chr8:8420735-8420785	HUVEC	blood vessel:	n/a
48	chr8:8420735-8420785	HRPEpiC	eye:	n/a
49	chr8:8420735-8420785	AG09309	skin:	n/a
50	chr8:8420735-8420785	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8411447..8415576-chr8:8419918..8422813,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253343	TF binding region
ENSG00000253343	CpG island

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10092749	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10111702	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10113718	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17153100	0.81[EUR][1000 genomes]
rs17153178	0.81[EUR][1000 genomes]
rs28410761	0.86[EUR][1000 genomes]
rs28578218	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28578713	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28684520	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28713404	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28762457	0.81[EUR][1000 genomes]
rs28832977	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55690768	0.90[EUR][1000 genomes]
rs66514308	0.81[EUR][1000 genomes]
rs6991798	0.81[EUR][1000 genomes]
rs73188566	0.81[EUR][1000 genomes]
rs73188598	0.81[EUR][1000 genomes]
rs73188600	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73190508	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73190520	0.90[EUR][1000 genomes]
rs73190521	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73190525	0.90[EUR][1000 genomes]
rs73190533	0.85[EUR][1000 genomes]
rs73499201	0.81[EUR][1000 genomes]
rs73518830	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	21 gene(s)	inside rSNPs	diseases
7	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS 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	20 gene(s)	inside rSNPs	diseases
9	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv465452	chr8:8313010-8450761	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv610173	chr8:8313010-8450761	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv465453	chr8:8318850-8439068	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv610174	chr8:8318850-8439068	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv470182	chr8:8318850-8448429	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv465454	chr8:8318850-8448688	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv465455	chr8:8318850-8448688	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv610175	chr8:8318850-8448688	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv465456	chr8:8318850-8450761	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv465457	chr8:8318850-8450761	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv610176	chr8:8318850-8450761	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
21	nsv610177	chr8:8318850-8454531	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv1026251	chr8:8319925-8448688	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
23	nsv1025433	chr8:8324419-8432339	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1020159	chr8:8324419-8450231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv539455	chr8:8324419-8450231	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
26	nsv890333	chr8:8328101-8456563	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
27	nsv890334	chr8:8328101-8471348	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
28	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
29	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
30	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
31	nsv890335	chr8:8394297-8448429	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
32	nsv890336	chr8:8396676-8500562	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
33	nsv6072	chr8:8414563-8440656	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
34	nsv1019794	chr8:8419612-8454162	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8403600-8421400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:8414800-8421600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:8414800-8422000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:8419000-8420800	Enhancers	NHLF	lung
5	chr8:8419000-8423600	Enhancers	Fetal Lung	lung
6	chr8:8419400-8421600	Weak transcription	NH-A	brain
7	chr8:8419400-8423200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:8419600-8421800	Enhancers	Fetal Intestine Large	intestine
9	chr8:8419600-8421800	Weak transcription	Osteobl	bone
10	chr8:8419600-8422000	Weak transcription	A549	lung
11	chr8:8419600-8422400	Enhancers	Fetal Intestine Small	intestine
12	chr8:8420000-8420800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:8420000-8422400	Enhancers	Fetal Stomach	stomach
14	chr8:8420000-8422600	Enhancers	Stomach Mucosa	stomach
15	chr8:8420000-8424600	Enhancers	Ovary	ovary
16	chr8:8420200-8420800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:8420200-8420800	Enhancers	Duodenum Mucosa	Duodenum
18	chr8:8420200-8420800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr8:8420200-8421000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:8420200-8421000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:8420200-8421800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:8420200-8422000	Enhancers	Rectal Smooth Muscle	rectum
23	chr8:8420200-8422800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr8:8420200-8423600	Enhancers	Colon Smooth Muscle	Colon
25	chr8:8420200-8423600	Enhancers	Placenta	Placenta
26	chr8:8420200-8424000	Enhancers	Fetal Muscle Leg	muscle
27	chr8:8420400-8421000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:8420400-8421400	Weak transcription	Fetal Kidney	kidney
29	chr8:8420400-8422000	Enhancers	Small Intestine	intestine
30	chr8:8420600-8420800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:8420600-8421400	Enhancers	Brain Germinal Matrix	brain
32	chr8:8420600-8421600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:8420600-8421600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:8420600-8421600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:8420600-8421800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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