Variant report

Variant	rs11785995
Chromosome Location	chr8:130952111-130952112
allele	A/G
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	chr8:130951754-130952172	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:130951779-130952251	A549	lung:	n/a	n/a
3	GABPA	chr8:130951473-130952734	MCF-7	breast:	n/a	chr8:130952245-130952254 chr8:130952135-130952146 chr8:130952135-130952144 chr8:130952137-130952146 chr8:130952135-130952149 chr8:130952132-130952146 chr8:130951740-130951754
4	E2F6	chr8:130951313-130952812	K562	blood:	n/a	chr8:130951957-130951966 chr8:130951963-130951973 chr8:130952245-130952254 chr8:130952136-130952145
5	TEAD4	chr8:130951850-130952388	ECC-1	luminal epithelium:	n/a	n/a
6	BCL3	chr8:130950992-130953051	A549	lung:	n/a	chr8:130951955-130951968 chr8:130951968-130951981 chr8:130951959-130951972 chr8:130952513-130952526
7	SP1	chr8:130951738-130952869	A549	lung:	n/a	chr8:130952209-130952223 chr8:130952214-130952223 chr8:130952197-130952211 chr8:130952213-130952223 chr8:130952078-130952087 chr8:130952214-130952223 chr8:130952212-130952223 chr8:130952212-130952224 chr8:130952198-130952207 chr8:130952213-130952222 chr8:130952080-130952094 chr8:130952212-130952224 chr8:130952303-130952310 chr8:130952196-130952208 chr8:130952197-130952206 chr8:130952267-130952277 chr8:130952197-130952206 chr8:130952213-130952223
8	GATA3	chr8:130951778-130952878	T-47D	breast:	n/a	n/a
9	GATA3	chr8:130951719-130953087	MCF-7	breast:	n/a	chr8:130952950-130952971
10	JUND	chr8:130951764-130952395	A549	lung:	n/a	chr8:130952152-130952161
11	JUND	chr8:130951670-130952832	MCF-7	breast:	n/a	chr8:130952152-130952161
12	POLR2A	chr8:130951662-130952349	GM12892	blood:	n/a	n/a
13	TEAD4	chr8:130951897-130952307	H1-hESC	embryonic stem cell:	n/a	n/a
14	USF2	chr8:130951935-130952665	GM12878	blood:	n/a	chr8:130951959-130951975 chr8:130951942-130951958
15	POLR2A	chr8:130951763-130952290	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr8:130951207-130952457	K562	blood:	n/a	n/a
17	NFIC	chr8:130951815-130952203	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:130951749-130952510	K562	blood:	n/a	n/a
19	POLR2A	chr8:130951692-130952223	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr8:130951776-130952312	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr8:130951726-130952643	GM12878	blood:	n/a	chr8:130951891-130951904 chr8:130951929-130951942
22	SIN3AK20	chr8:130951854-130952114	HepG2	liver:	n/a	n/a
23	CTCF	chr8:130951735-130952164	IMR90	lung:	n/a	chr8:130951891-130951904 chr8:130951929-130951942
24	TAF1	chr8:130951704-130952205	Hela-S3	cervix:	n/a	n/a
25	IRF1	chr8:130951829-130952284	K562	blood:	n/a	chr8:130952266-130952280 chr8:130952194-130952208 chr8:130952212-130952226 chr8:130952102-130952111
26	FOXP2	chr8:130951939-130952177	SK-N-MC	brain:	n/a	n/a
27	NRF1	chr8:130951946-130952329	K562	blood:	n/a	chr8:130952245-130952254 chr8:130952135-130952146 chr8:130952135-130952144 chr8:130952137-130952146 chr8:130952134-130952145 chr8:130952135-130952149 chr8:130952132-130952146
28	MYC	chr8:130951845-130952721	HepG2	liver:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130952496-130952505
29	CHD2	chr8:130951846-130952208	HepG2	liver:	n/a	n/a
30	USF1	chr8:130951844-130952742	K562	blood:	n/a	chr8:130952578-130952589 chr8:130951959-130951975 chr8:130951942-130951958
31	POLR2A	chr8:130950882-130952527	GM12878	blood:	n/a	n/a
32	ELF1	chr8:130951229-130952707	GM12878	blood:	n/a	n/a
33	MAX	chr8:130951738-130952885	ECC-1	luminal epithelium:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130952496-130952505
34	MYC	chr8:130951328-130952883	K562	blood:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
35	POLR2A	chr8:130951690-130952373	U87	brain:	n/a	n/a
36	POLR2A	chr8:130951733-130952239	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr8:130951980-130952130	GM12865	blood:	n/a	n/a
38	TCF12	chr8:130951701-130952693	A549	lung:	n/a	n/a
39	POLR2A	chr8:130951265-130952684	A549	lung:	n/a	n/a
40	NR2F2	chr8:130951520-130952788	MCF-7	breast:	n/a	n/a
41	EGR1	chr8:130951808-130952377	K562	blood:	n/a	chr8:130952100-130952109 chr8:130952245-130952255 chr8:130952290-130952300 chr8:130951952-130951965 chr8:130952136-130952145 chr8:130952079-130952092
42	RCOR1	chr8:130951837-130952682	K562	blood:	n/a	n/a
43	STAT5A	chr8:130951693-130952205	K562	blood:	n/a	chr8:130952193-130952205 chr8:130952080-130952092
44	GABPA	chr8:130951853-130952272	K562	blood:	n/a	chr8:130952245-130952254 chr8:130952135-130952146 chr8:130952135-130952144 chr8:130952137-130952146 chr8:130952135-130952149 chr8:130952132-130952146
45	SIN3A	chr8:130951684-130952162	GM12878	blood:	n/a	n/a
46	POLR2A	chr8:130951629-130952312	HUVEC	blood vessel:	n/a	n/a
47	MXI1	chr8:130951785-130952734	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr8:130951182-130952843	HepG2	liver:	n/a	chr8:130952579-130952588 chr8:130952574-130952593 chr8:130952581-130952588 chr8:130951563-130951573 chr8:130952496-130952505
49	ELF1	chr8:130951343-130952873	MCF-7	breast:	n/a	n/a
50	CTCF	chr8:130951816-130952161	Spleen_OC	spleen:	n/a	chr8:130951891-130951904 chr8:130951929-130951942

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:130952075-130952125	PrEC	prostate:	n/a
2	chr8:130952075-130952125	NB4	blood:	n/a
3	chr8:130952078-130952128	CMK	blood:	n/a
4	chr8:130952078-130952128	BE2_C	brain:	n/a
5	chr8:130952075-130952125	PFSK-1	brain:	n/a
6	chr8:130952075-130952125	NHDF-neo	bronchial:	n/a
7	chr8:130952078-130952128	AG04450	lung:	fetal
8	chr8:130952075-130952125	ECC-1	luminal epithelium:	n/a
9	chr8:130952075-130952125	LNCaP	prostate:	n/a
10	chr8:130952075-130952125	AG09309	skin:	n/a
11	chr8:130952075-130952125	BE2_C	brain:	n/a
12	chr8:130952075-130952125	NHBE	bronchial:	n/a
13	chr8:130952075-130952125	A549	lung:	n/a
14	chr8:130952075-130952125	HCT-116	colon:	n/a
15	chr8:130952078-130952128	A549	lung:	n/a
16	chr8:130952075-130952125	HCM	heart:	n/a
17	chr8:130952075-130952125	HNPCEpiC	eye:	n/a
18	chr8:130952075-130952125	HUVEC	blood vessel:	n/a
19	chr8:130952078-130952128	GM06990	blood:	n/a
20	chr8:130952078-130952128	GM12891	blood:	n/a
21	chr8:130952078-130952128	HMEC	breast:	n/a
22	chr8:130952078-130952128	U87	brain:	n/a
23	chr8:130952075-130952125	HMEC	breast:	n/a
24	chr8:130952075-130952125	HIPEpiC	eye:	n/a
25	chr8:130952075-130952125	H1-hESC	embryonic stem cell:	embryo
26	chr8:130952075-130952125	NT2-D1	testis:	n/a
27	chr8:130952075-130952125	Hepatocyte	liver:	n/a
28	chr8:130952075-130952125	HRPEpiC	eye:	n/a
29	chr8:130952078-130952128	HUVEC	blood vessel:	n/a
30	chr8:130952078-130952128	ovcar-3	ovarian:	n/a
31	chr8:130952078-130952128	Hela-S3	cervix:	n/a
32	chr8:130952078-130952128	HNPCEpiC	eye:	n/a
33	chr8:130952075-130952125	HRE	kidney:	n/a
34	chr8:130952078-130952128	PrEC	prostate:	n/a
35	chr8:130952075-130952125	MCF10A-Er-Src	breast:	n/a
36	chr8:130952075-130952125	HEK293	kidney:	embryo
37	chr8:130952078-130952128	HEK293	kidney:	embryo
38	chr8:130952078-130952128	Caco-2	colon:	n/a
39	chr8:130952078-130952128	IMR90	lung:	fetal
40	chr8:130952075-130952125	PANC-1	pancreas:	n/a
41	chr8:130952075-130952125	Caco-2	colon:	n/a
42	chr8:130952078-130952128	HCT-116	colon:	n/a
43	chr8:130952075-130952125	HL-60	blood:	n/a
44	chr8:130952078-130952128	GM12892	blood:	n/a
45	chr8:130952078-130952128	AG10803	skin:	n/a
46	chr8:130952078-130952128	AG09309	skin:	n/a
47	chr8:130952075-130952125	RPTEC	kidney:	n/a
48	chr8:130952078-130952128	SKMC	muscle:	n/a
49	chr8:130952078-130952128	LNCaP	prostate:	n/a
50	chr8:130952078-130952128	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:130950508..130954142-chr8:131027064..131029855,6	MCF-7	breast:
2	chr4:152329639..152330392-chr8:130951751..130952461,2	HCT-116	colon:
3	chr8:130951528..130952250-chr8:131028470..131029127,2	MCF-7	breast:
4	chr8:130949943..130953390-chr8:131026093..131029581,5	K562	blood:
5	chr8:130950627..130952678-chr8:131014268..131017998,3	K562	blood:
6	chr8:130949993..130954520-chr8:130981777..130987768,8	K562	blood:
7	chr8:130950293..130952850-chr8:131027033..131029151,3	MCF-7	breast:
8	chr8:130949293..130953390-chr8:131026261..131028875,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFR3A-4	chr8:130952102-130952164	ENSG00000253720

Variant related genes	Relation type
FAM49B	TF binding region
FAM49B	CpG island
ENSG00000251611	Chromatin interaction
ENSG00000253043	Chromatin interaction
ENSG00000164142	Chromatin interaction
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10092658	1.00[JPT][hapmap]
rs11779059	1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783021	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56133915	1.00[ASN][1000 genomes]
rs56406931	1.00[ASN][1000 genomes]

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	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130950000-130952600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:130950000-130952600	Active TSS	Fetal Intestine Large	intestine
3	chr8:130950200-130952800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr8:130950200-130952800	Active TSS	Psoas Muscle	Psoas
5	chr8:130950200-130953200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:130950400-130953000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:130950600-130952400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr8:130950600-130952400	Active TSS	Fetal Muscle Leg	muscle
9	chr8:130950600-130952400	Active TSS	HSMM	muscle
10	chr8:130950600-130952600	Bivalent/Poised TSS	HepG2	liver
11	chr8:130950600-130952800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr8:130950600-130952800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:130950600-130953000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:130950600-130953000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr8:130950800-130952200	Active TSS	Stomach Smooth Muscle	stomach
16	chr8:130950800-130952400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:130950800-130952600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr8:130950800-130952600	Active TSS	Aorta	Aorta
19	chr8:130950800-130952800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:130950800-130952800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:130950800-130952800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:130950800-130953000	Active TSS	Rectal Smooth Muscle	rectum
23	chr8:130951000-130952200	Active TSS	HMEC	breast
24	chr8:130951000-130952400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:130951000-130952400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr8:130951000-130952400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:130951000-130952400	Active TSS	GM12878-XiMat	blood
28	chr8:130951000-130952400	Active TSS	K562	blood
29	chr8:130951000-130952400	Active TSS	NHEK	skin
30	chr8:130951000-130952600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:130951000-130952600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr8:130951000-130952600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr8:130951000-130952600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:130951000-130952600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr8:130951000-130952600	Active TSS	Right Ventricle	heart
36	chr8:130951000-130952800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:130951000-130952800	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr8:130951000-130952800	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr8:130951000-130952800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:130951000-130952800	Active TSS	Ovary	ovary
41	chr8:130951000-130952800	Active TSS	A549	lung
42	chr8:130951000-130952800	Active TSS	HSMMtube	muscle
43	chr8:130951000-130953000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr8:130951000-130953000	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr8:130951000-130953000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:130951000-130953200	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr8:130951200-130952200	Active TSS	Colonic Mucosa	Colon
48	chr8:130951200-130952200	Active TSS	Placenta	Placenta
49	chr8:130951200-130952200	Active TSS	Placenta Amnion	Placenta Amnion
50	chr8:130951200-130952200	Active TSS	Stomach Mucosa	stomach

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