Variant report

Variant	rs11205037
Chromosome Location	chr1:149816036-149816037
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:149814984-149816165	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr1:149800421-149817942	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:149807697-149816065	Hela-S3	cervix:	n/a	n/a
4	MYC	chr1:149815284-149816086	MCF10A-Er-Src	breast:	n/a	n/a
5	BCLAF1	chr1:149814964-149816082	K562	blood:	n/a	chr1:149815137-149815146
6	POLR2A	chr1:149815741-149816069	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:149814988-149821817	K562	blood:	n/a	n/a
8	JUN	chr1:149815701-149816286	Hela-S3	cervix:	n/a	n/a
9	ARID3A	chr1:149815317-149816108	HepG2	liver:	n/a	n/a
10	STAT3	chr1:149815728-149816137	MCF10A-Er-Src	breast:	n/a	n/a
11	MXI1	chr1:149815603-149816040	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr1:149815005-149816256	HCT-116	colon:	n/a	n/a
13	CEBPB	chr1:149815443-149816067	A549	lung:	n/a	n/a
14	POLR2A	chr1:149814991-149821919	K562	blood:	n/a	n/a
15	CEBPB	chr1:149815697-149816091	K562	blood:	n/a	n/a
16	JUND	chr1:149815723-149816054	K562	blood:	n/a	chr1:149815900-149815911
17	CEBPB	chr1:149815437-149816141	A549	lung:	n/a	n/a
18	TAF7	chr1:149814973-149817543	H1-hESC	embryonic stem cell:	n/a	n/a
19	PML	chr1:149815085-149816105	K562	blood:	n/a	n/a
20	CEBPB	chr1:149815428-149816092	IMR90	lung:	n/a	n/a
21	CEBPB	chr1:149815543-149816070	HepG2	liver:	n/a	n/a
22	ZKSCAN1	chr1:149815237-149816107	Hela-S3	cervix:	n/a	n/a
23	EP300	chr1:149815490-149816078	Hela-S3	cervix:	n/a	n/a
24	SIN3AK20	chr1:149814982-149816078	K562	blood:	n/a	n/a
25	JUND	chr1:149815648-149816074	Hela-S3	cervix:	n/a	chr1:149815900-149815911
26	POLR2A	chr1:149814947-149816071	Hela-S3	cervix:	n/a	n/a
27	FOS	chr1:149815299-149816089	MCF10A-Er-Src	breast:	n/a	n/a
28	CHD1	chr1:149815008-149817854	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr1:149815508-149816051	HepG2	liver:	n/a	chr1:149815900-149815911
30	CEBPB	chr1:149815468-149816062	K562	blood:	n/a	n/a
31	STAT3	chr1:149815734-149816036	MCF10A-Er-Src	breast:	n/a	n/a
32	CHD2	chr1:149815083-149816086	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr1:149815625-149816095	HCT-116	colon:	n/a	n/a
34	CEBPB	chr1:149815279-149816104	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr1:149814975-149819632	K562	blood:	n/a	n/a
36	RFX5	chr1:149815379-149816047	Hela-S3	cervix:	n/a	n/a
37	FOS	chr1:149815670-149816082	MCF10A-Er-Src	breast:	n/a	n/a
38	CEBPB	chr1:149815773-149816055	MCF-7	breast:	n/a	n/a
39	POLR2A	chr1:149815112-149817954	HepG2	liver:	n/a	n/a
40	HEY1	chr1:149802405-149816357	K562	blood:	n/a	chr1:149812873-149812882 chr1:149812875-149812884
41	CEBPD	chr1:149815699-149816119	K562	blood:	n/a	n/a
42	POLR2A	chr1:149815160-149817351	A549	lung:	n/a	n/a
43	MYC	chr1:149815719-149816077	MCF10A-Er-Src	breast:	n/a	n/a
44	GATA3	chr1:149815515-149816194	SK-N-SH	brain:	n/a	n/a
45	TEAD4	chr1:149815006-149816111	K562	blood:	n/a	n/a
46	FOS	chr1:149815699-149816084	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr1:149815733-149816142	MCF10A-Er-Src	breast:	n/a	n/a
48	BRCA1	chr1:149815147-149816387	Hela-S3	cervix:	n/a	n/a
49	FOS	chr1:149815271-149816145	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr1:149815754-149816058	HCT-116	colon:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149815719..149822339-chr1:149907112..149913890,13	MCF-7	breast:
2	chr1:149813687..149823244-chr1:149851297..149861525,76	MCF-7	breast:
3	chr1:149815832..149817398-chr17:41463861..41466579,2	MCF-7	breast:
4	chr1:149814583..149816442-chr1:150038342..150040815,2	MCF-7	breast:
5	chr1:149813928..149823076-chr1:149854513..149862208,33	K562	blood:
6	chr1:149815410..149817794-chr1:149900163..149901806,2	K562	blood:
7	chr1:149815281..149817675-chr1:149980545..149983333,2	K562	blood:
8	chr1:149780184..149786348-chr1:149813638..149819174,10	MCF-7	breast:
9	chr1:149814002..149823234-chr1:149906555..149912579,18	MCF-7	breast:
10	chr1:149813697..149823354-chr1:149851773..149862006,115	MCF-7	breast:
11	chr1:149813771..149823366-chr1:149853740..149862208,36	K562	blood:
12	chr1:149815885..149817611-chr1:150124360..150125922,2	K562	blood:
13	chr1:149813582..149820276-chr1:149898052..149903861,9	MCF-7	breast:
14	chr1:149815420..149817378-chr1:150036964..150039630,2	MCF-7	breast:

No data

Variant related genes	Relation type
HIST2H3C	TF binding region
ENSG00000272993	TF binding region
HIST2H2AA3	TF binding region
ENSG00000023902	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000203814	Chromatin interaction
ENSG00000183598	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000242663	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000014914	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1260246	1.00[ASN][1000 genomes]
rs41265172	1.00[ASN][1000 genomes]
rs55909843	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59420759	1.00[ASN][1000 genomes]
rs67567469	1.00[ASN][1000 genomes]
rs72708144	1.00[ASN][1000 genomes]
rs7531664	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	esv1806395	chr1:149015282-149849940	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	425 gene(s)	inside rSNPs	diseases
3	esv1831586	chr1:149036382-149849940	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	425 gene(s)	inside rSNPs	diseases
4	nsv831503	chr1:149640643-149820841	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv469694	chr1:149688852-149836280	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482790	chr1:149688852-149836280	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv831525	chr1:149701537-149878033	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
8	nsv547843	chr1:149798606-149818466	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11205037	MRPS21	cis	parietal	SCAN
rs11205037	FCGR1C	cis	Whole Blood	GTEx
rs11205037	SEMA6C	cis	cerebellum	SCAN
rs11205037	PLEKHO1	cis	cerebellum	SCAN
rs11205037	GJA8	cis	parietal	SCAN
rs11205037	POLR3GL	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149814800-149816200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:149814800-149816200	Active TSS	Fetal Intestine Small	intestine
3	chr1:149814800-149816400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:149814800-149816400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:149814800-149816400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:149814800-149816400	Active TSS	Thymus	Thymus
7	chr1:149814800-149817000	Active TSS	Primary T cells fromperipheralblood	blood
8	chr1:149815000-149816200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:149815000-149816200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:149815000-149816200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:149815000-149816200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:149815000-149816200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:149815000-149816200	Active TSS	Fetal Thymus	thymus
14	chr1:149815000-149816200	Active TSS	A549	lung
15	chr1:149815000-149816200	Active TSS	HepG2	liver
16	chr1:149815000-149816200	Active TSS	NHLF	lung
17	chr1:149815000-149816400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:149815000-149816400	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:149815000-149816400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr1:149815000-149816400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr1:149815000-149816400	Active TSS	K562	blood
22	chr1:149815000-149816600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:149815000-149816600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:149815000-149816600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:149815000-149816600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr1:149815000-149816600	Active TSS	Aorta	Aorta
27	chr1:149815000-149816600	Active TSS	GM12878-XiMat	blood
28	chr1:149815000-149816800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:149815000-149816800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:149815000-149817000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:149815000-149817200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:149815000-149817400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:149815000-149817400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:149815000-149817600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:149815000-149817600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:149815000-149817800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:149815000-149817800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr1:149815000-149818000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr1:149815200-149816200	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr1:149815200-149816400	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr1:149815200-149816400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:149815200-149816400	Flanking Active TSS	Dnd41	blood
43	chr1:149815200-149816600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:149815200-149816600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr1:149815200-149817000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr1:149815200-149817600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr1:149815200-149817800	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr1:149815400-149816400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr1:149815400-149816800	Flanking Active TSS	NHDF-Ad	bronchial
50	chr1:149815400-149817000	Weak transcription	Pancreas	Pancrea

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