Variant report

Variant	rs11121486
Chromosome Location	chr1:9795250-9795251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:9795087-9795513	GM12891	blood:	n/a	n/a
2	POLR2A	chr1:9794553-9795347	GM12891	blood:	n/a	n/a
3	POLR2A	chr1:9794637-9795443	GM12891	blood:	n/a	n/a
4	POLR2A	chr1:9794664-9795275	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:9795186-9795634	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:9794503-9796630	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:9795222-9795272	NHBE	bronchial:	n/a
2	chr1:9795222-9795272	HNPCEpiC	eye:	n/a
3	chr1:9795222-9795272	HRCEpiC	kidney:	n/a
4	chr1:9795222-9795272	PrEC	prostate:	n/a
5	chr1:9795222-9795272	HCT-116	colon:	n/a
6	chr1:9795222-9795272	H1-hESC	embryonic stem cell:	embryo
7	chr1:9795222-9795272	HepG2	liver:	n/a
8	chr1:9795222-9795272	ProgFib	skin:	n/a
9	chr1:9795222-9795272	SK-N-SH	brain:	n/a
10	chr1:9795222-9795272	HAEpiC	amniotic membrane:	n/a
11	chr1:9795222-9795272	HIPEpiC	eye:	n/a
12	chr1:9795222-9795272	Hepatocyte	liver:	n/a
13	chr1:9795222-9795272	Jurkat	blood:	n/a
14	chr1:9795222-9795272	GM19239	blood:	n/a
15	chr1:9795222-9795272	AG09319	gingival:	n/a
16	chr1:9795222-9795272	T-47D	breast:	n/a
17	chr1:9795222-9795272	SAEC	small airway:	n/a
18	chr1:9795222-9795272	HL-60	blood:	n/a
19	chr1:9795222-9795272	U87	brain:	n/a
20	chr1:9795222-9795272	NHDF-neo	bronchial:	n/a
21	chr1:9795222-9795272	HCF	heart:	n/a
22	chr1:9795222-9795272	NB4	blood:	n/a
23	chr1:9795222-9795272	HCPEpiC	choroid plexus:	n/a
24	chr1:9795222-9795272	HRPEpiC	eye:	n/a
25	chr1:9795222-9795272	MCF10A-Er-Src	breast:	n/a
26	chr1:9795222-9795272	BE2_C	brain:	n/a
27	chr1:9795222-9795272	NT2-D1	testis:	n/a
28	chr1:9795222-9795272	AG04450	lung:	fetal
29	chr1:9795222-9795272	HMEC	breast:	n/a
30	chr1:9795222-9795272	A549	lung:	n/a
31	chr1:9795222-9795272	HEK293	kidney:	embryo
32	chr1:9795222-9795272	Hela-S3	cervix:	n/a
33	chr1:9795222-9795272	HCM	heart:	n/a
34	chr1:9795222-9795272	GM12878	blood:	n/a
35	chr1:9795222-9795272	Caco-2	colon:	n/a
36	chr1:9795222-9795272	MCF-7	breast:	n/a
37	chr1:9795222-9795272	SK-N-SH_RA	brain:	n/a
38	chr1:9795222-9795272	ovcar-3	ovarian:	n/a
39	chr1:9795222-9795272	ECC-1	luminal epithelium:	n/a
40	chr1:9795222-9795272	CMK	blood:	n/a
41	chr1:9795222-9795272	AG10803	skin:	n/a
42	chr1:9795222-9795272	SK-N-MC	brain:	n/a
43	chr1:9795222-9795272	RPTEC	kidney:	n/a
44	chr1:9795222-9795272	HEEpiC	esophagus:	n/a
45	chr1:9795222-9795272	NH-A	brain:	n/a
46	chr1:9795222-9795272	AoSMC	blood vessel:	n/a
47	chr1:9795222-9795272	GM06990	blood:	n/a
48	chr1:9795222-9795272	PFSK-1	brain:	n/a
49	chr1:9795222-9795272	BJ	skin:	n/a
50	chr1:9795222-9795272	GM12891	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:9789064..9790899-chr1:9794257..9796422,2	K562	blood:
2	chr1:9795106..9799024-chr1:9799834..9803861,3	K562	blood:
3	chr1:9788708..9790899-chr1:9794922..9796917,2	K562	blood:
4	chr1:9777325..9778983-chr1:9792755..9795426,2	K562	blood:

No data

Variant related genes	Relation type
CLSTN1	TF binding region
CLSTN1	CpG island
ENSG00000171608	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10779730	0.85[EUR][1000 genomes]
rs10779731	0.85[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap]
rs10864435	0.94[CHD][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes]
rs10864436	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.99[ASN][1000 genomes]
rs11121484	0.94[CHD][hapmap];0.81[JPT][hapmap]
rs11121485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11121488	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11121489	0.86[EUR][1000 genomes]
rs11121492	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11121493	0.85[CEU][hapmap];0.81[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap]
rs1141402	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11804356	0.90[EUR][1000 genomes]
rs12025864	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12034239	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12034313	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12037599	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12042293	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12047054	0.85[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap]
rs12064975	0.86[EUR][1000 genomes]
rs12078414	0.85[CEU][hapmap]
rs12568720	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs12569008	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs1615629	0.85[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap]
rs1660741	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs1660742	0.88[ASW][hapmap];0.85[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs17034335	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs17034340	0.87[ASN][1000 genomes]
rs1767277	0.85[CEU][hapmap]
rs41280774	0.81[EUR][1000 genomes]
rs41280776	0.81[EUR][1000 genomes]
rs4512653	0.88[CHB][hapmap];0.84[EUR][1000 genomes]
rs6699320	0.87[ASW][hapmap];0.85[CEU][hapmap];0.86[LWK][hapmap];0.80[MKK][hapmap];0.89[YRI][hapmap]
rs7526958	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs7550295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs767762	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9750600-9813000	Weak transcription	Right Atrium	heart
2	chr1:9781200-9813200	Strong transcription	Stomach Smooth Muscle	stomach
3	chr1:9781600-9800600	Weak transcription	Fetal Brain Male	brain
4	chr1:9783800-9799600	Strong transcription	Fetal Brain Female	brain
5	chr1:9784000-9797200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:9784000-9815400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:9784200-9796800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:9784200-9807400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:9784200-9815800	Strong transcription	Fetal Intestine Small	intestine
10	chr1:9786400-9814000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:9786600-9798000	Strong transcription	Adipose Nuclei	Adipose
12	chr1:9786600-9802200	Strong transcription	Esophagus	oesophagus
13	chr1:9786600-9804800	Strong transcription	Ovary	ovary
14	chr1:9786600-9806000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:9786600-9807000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:9786600-9807000	Strong transcription	HepG2	liver
17	chr1:9786600-9815200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:9786800-9796000	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr1:9786800-9802600	Strong transcription	Osteobl	bone
20	chr1:9786800-9806200	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr1:9786800-9807200	Strong transcription	Placenta	Placenta
22	chr1:9786800-9814000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:9787000-9798000	Strong transcription	Colonic Mucosa	Colon
24	chr1:9787000-9801600	Strong transcription	Gastric	stomach
25	chr1:9787000-9801600	Strong transcription	Right Ventricle	heart
26	chr1:9787000-9805600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:9787000-9807000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr1:9787000-9813000	Weak transcription	Fetal Heart	heart
29	chr1:9787200-9802400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:9787200-9804800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:9787200-9806800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:9787200-9807200	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:9787400-9797200	Strong transcription	Brain Anterior Caudate	brain
34	chr1:9787400-9801800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:9787400-9806400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:9787400-9807000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr1:9787400-9807200	Strong transcription	Left Ventricle	heart
38	chr1:9787400-9807200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:9787400-9811800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:9787600-9802200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:9787600-9807400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:9787600-9812000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:9787600-9813200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:9787600-9815200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:9788000-9802400	Strong transcription	Brain Hippocampus Middle	brain
46	chr1:9788000-9807000	Strong transcription	NHEK	skin
47	chr1:9788200-9797400	Strong transcription	Rectal Smooth Muscle	rectum
48	chr1:9788200-9799600	Strong transcription	Pancreas	Pancrea
49	chr1:9788200-9804800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:9788400-9797400	Strong transcription	Brain Cingulate Gyrus	brain

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