Variant report

Variant	rs11804064
Chromosome Location	chr1:245843976-245843977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
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	chr1:245843701-245844183	H1-neurons	neurons:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:245843929-245843979	SKMC	muscle:	n/a
2	chr1:245843929-245843979	GM12878	blood:	n/a
3	chr1:245843929-245843979	H1-hESC	embryonic stem cell:	embryo
4	chr1:245843929-245843979	SK-N-MC	brain:	n/a
5	chr1:245843929-245843979	MCF10A-Er-Src	breast:	n/a
6	chr1:245843929-245843979	BJ	skin:	n/a
7	chr1:245843929-245843979	Hepatocyte	liver:	n/a
8	chr1:245843929-245843979	HUVEC	blood vessel:	n/a
9	chr1:245843929-245843979	HCF	heart:	n/a
10	chr1:245843929-245843979	HCT-116	colon:	n/a
11	chr1:245843929-245843979	GM12891	blood:	n/a
12	chr1:245843929-245843979	RPTEC	kidney:	n/a
13	chr1:245843929-245843979	ovcar-3	ovarian:	n/a
14	chr1:245843929-245843979	T-47D	breast:	n/a
15	chr1:245843929-245843979	PrEC	prostate:	n/a
16	chr1:245843929-245843979	ECC-1	luminal epithelium:	n/a
17	chr1:245843929-245843979	NT2-D1	testis:	n/a
18	chr1:245843929-245843979	AG10803	skin:	n/a
19	chr1:245843929-245843979	GM12892	blood:	n/a
20	chr1:245843929-245843979	HL-60	blood:	n/a
21	chr1:245843929-245843979	GM06990	blood:	n/a
22	chr1:245843929-245843979	ProgFib	skin:	n/a
23	chr1:245843929-245843979	HEK293	kidney:	embryo
24	chr1:245843929-245843979	PFSK-1	brain:	n/a
25	chr1:245843929-245843979	Caco-2	colon:	n/a
26	chr1:245843929-245843979	HCPEpiC	choroid plexus:	n/a
27	chr1:245843929-245843979	AG04449	skin:	fetal
28	chr1:245843929-245843979	BE2_C	brain:	n/a
29	chr1:245843929-245843979	LNCaP	prostate:	n/a
30	chr1:245843929-245843979	HRCEpiC	kidney:	n/a
31	chr1:245843929-245843979	AG09319	gingival:	n/a
32	chr1:245843929-245843979	HepG2	liver:	n/a
33	chr1:245843929-245843979	HCM	heart:	n/a
34	chr1:245843929-245843979	NHBE	bronchial:	n/a
35	chr1:245843929-245843979	Hela-S3	cervix:	n/a
36	chr1:245843929-245843979	CMK	blood:	n/a
37	chr1:245843929-245843979	HRE	kidney:	n/a
38	chr1:245843929-245843979	GM19239	blood:	n/a
39	chr1:245843929-245843979	HAEpiC	amniotic membrane:	n/a
40	chr1:245843929-245843979	HRPEpiC	eye:	n/a
41	chr1:245843929-245843979	AG04450	lung:	fetal
42	chr1:245843929-245843979	SK-N-SH_RA	brain:	n/a
43	chr1:245843929-245843979	SAEC	small airway:	n/a
44	chr1:245843929-245843979	IMR90	lung:	fetal
45	chr1:245843929-245843979	HPAEpiC	pulmonary alveolar:	n/a
46	chr1:245843929-245843979	MCF-7	breast:	n/a
47	chr1:245843929-245843979	K562	blood:	n/a
48	chr1:245843929-245843979	HEEpiC	esophagus:	n/a
49	chr1:245843929-245843979	PANC-1	pancreas:	n/a
50	chr1:245843929-245843979	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:245842274..245845085-chr1:245848041..245849884,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231612	TF binding region
ENSG00000231612	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6605251	1.00[AMR][1000 genomes]
rs72764840	1.00[AMR][1000 genomes]
rs72764843	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007728	chr1:245235174-246156455	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1014558	chr1:245316147-245862041	Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1002499	chr1:245365351-245929051	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv497871	chr1:245706209-246655353	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv534412	chr1:245747724-246655416	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv3403138	chr1:245793113-245892931	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1003594	chr1:245801793-246649329	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv521141	chr1:245822899-245863222	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2752867	chr1:245829959-245932959	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription 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	3 gene(s)	inside rSNPs	diseases
10	nsv1004412	chr1:245830921-246169054	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv535385	chr1:245830921-246169054	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:245815200-245846200	Weak transcription	Fetal Brain Female	brain
2	chr1:245815200-245848400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:245831200-245846400	Weak transcription	Placenta	Placenta
4	chr1:245831200-245847400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:245835600-245848400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:245836000-245848400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:245837200-245846600	Weak transcription	NHLF	lung
8	chr1:245838600-245846400	Weak transcription	Right Ventricle	heart
9	chr1:245839800-245849600	Weak transcription	Gastric	stomach
10	chr1:245840000-245846000	Weak transcription	Fetal Heart	heart
11	chr1:245841000-245848000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:245841400-245846000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:245841400-245846200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:245841400-245856200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:245842200-245844000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:245842400-245844400	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:245842400-245845000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:245842400-245847800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:245842600-245846200	Weak transcription	Fetal Stomach	stomach
20	chr1:245843000-245844200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:245843000-245844400	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:245843000-245844400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:245843000-245845000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:245843200-245844200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:245843200-245845000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:245843200-245851200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:245843400-245844000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:245843400-245844200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr1:245843600-245844200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:245843600-245844400	Enhancers	Primary B cells from cord blood	blood

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