Variant report

Variant	rs11844358
Chromosome Location	chr14:38080088-38080089
allele	A/G
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	CEBPB	chr14:38079980-38080100	HepG2	liver:	n/a	chr14:38080019-38080030

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:38080048-38080098	CMK	blood:	n/a
2	chr14:38080048-38080098	PANC-1	pancreas:	n/a
3	chr14:38080048-38080098	HCT-116	colon:	n/a
4	chr14:38080048-38080098	MCF10A-Er-Src	breast:	n/a
5	chr14:38080048-38080098	NT2-D1	testis:	n/a
6	chr14:38080048-38080098	NHDF-neo	bronchial:	n/a
7	chr14:38080048-38080098	U87	brain:	n/a
8	chr14:38080048-38080098	HIPEpiC	eye:	n/a
9	chr14:38080048-38080098	BE2_C	brain:	n/a
10	chr14:38080048-38080098	HCM	heart:	n/a
11	chr14:38080048-38080098	H1-hESC	embryonic stem cell:	embryo
12	chr14:38080048-38080098	AG09309	skin:	n/a
13	chr14:38080048-38080098	GM06990	blood:	n/a
14	chr14:38080048-38080098	SKMC	muscle:	n/a
15	chr14:38080048-38080098	HEK293	kidney:	embryo
16	chr14:38080048-38080098	LNCaP	prostate:	n/a
17	chr14:38080048-38080098	Jurkat	blood:	n/a
18	chr14:38080048-38080098	HNPCEpiC	eye:	n/a
19	chr14:38080048-38080098	NH-A	brain:	n/a
20	chr14:38080048-38080098	ovcar-3	ovarian:	n/a
21	chr14:38080048-38080098	GM12892	blood:	n/a
22	chr14:38080048-38080098	HPAEpiC	pulmonary alveolar:	n/a
23	chr14:38080048-38080098	BJ	skin:	n/a
24	chr14:38080048-38080098	PrEC	prostate:	n/a
25	chr14:38080048-38080098	HepG2	liver:	n/a
26	chr14:38080048-38080098	AG04449	skin:	fetal
27	chr14:38080048-38080098	T-47D	breast:	n/a
28	chr14:38080048-38080098	HMEC	breast:	n/a
29	chr14:38080048-38080098	AoSMC	blood vessel:	n/a
30	chr14:38080048-38080098	SK-N-SH_RA	brain:	n/a
31	chr14:38080048-38080098	HEEpiC	esophagus:	n/a
32	chr14:38080048-38080098	Caco-2	colon:	n/a
33	chr14:38080048-38080098	HRPEpiC	eye:	n/a
34	chr14:38080048-38080098	AG10803	skin:	n/a
35	chr14:38080048-38080098	NHBE	bronchial:	n/a
36	chr14:38080048-38080098	ProgFib	skin:	n/a
37	chr14:38080048-38080098	ECC-1	luminal epithelium:	n/a
38	chr14:38080048-38080098	SK-N-SH	brain:	n/a
39	chr14:38080048-38080098	PFSK-1	brain:	n/a
40	chr14:38080048-38080098	HAEpiC	amniotic membrane:	n/a
41	chr14:38080048-38080098	AG09319	gingival:	n/a
42	chr14:38080048-38080098	MCF-7	breast:	n/a
43	chr14:38080048-38080098	SK-N-MC	brain:	n/a
44	chr14:38080048-38080098	HRCEpiC	kidney:	n/a
45	chr14:38080048-38080098	K562	blood:	n/a
46	chr14:38080048-38080098	GM12878	blood:	n/a
47	chr14:38080048-38080098	A549	lung:	n/a
48	chr14:38080048-38080098	IMR90	lung:	fetal
49	chr14:38080048-38080098	HL-60	blood:	n/a
50	chr14:38080048-38080098	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:38071630..38073230-chr14:38078352..38080400,2	MCF-7	breast:

No data

Variant related genes	Relation type
TTC6	TF binding region
TTC6	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10139826	0.92[CEU][hapmap]
rs11156965	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs12431417	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs12433850	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs12435334	0.92[CEU][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs17179337	0.92[CEU][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs177829	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs177835	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs177848	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs177869	0.91[EUR][1000 genomes]
rs177871	0.85[EUR][1000 genomes]
rs177888	0.88[EUR][1000 genomes]
rs177899	0.92[CEU][hapmap];0.89[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs1951647	0.84[EUR][1000 genomes]
rs1957588	0.92[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs1957589	0.92[CEU][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.80[EUR][1000 genomes]
rs1998124	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998125	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs466255	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][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	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv826923	chr14:38017619-38108645	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv832772	chr14:38030300-38225921	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv901642	chr14:38041870-38081005	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv901643	chr14:38047789-38081005	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv901646	chr14:38051035-38081005	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
8	nsv1054995	chr14:38078027-38138176	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11844358	FAM177A1	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38073000-38080200	Weak transcription	Gastric	stomach
2	chr14:38078800-38080800	Strong transcription	HepG2	liver
3	chr14:38079000-38080200	Strong transcription	Liver	Liver
4	chr14:38079800-38080600	Bivalent Enhancer	Fetal Brain Male	brain
5	chr14:38080000-38080200	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chr14:38080000-38080200	Bivalent Enhancer	Fetal Stomach	stomach
7	chr14:38080000-38080800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:38080000-38080800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr14:38080000-38081000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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