Variant report

Variant	rs17184217
Chromosome Location	chr14:67825877-67825878
allele	C/T
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	CTCF	chr14:67825771-67827860	A549	lung:	n/a	chr14:67826797-67826815 chr14:67826792-67826813 chr14:67826798-67826814
2	TAF1	chr14:67825767-67827599	ECC-1	luminal epithelium:	n/a	n/a
3	NRF1	chr14:67825457-67827423	SK-N-SH	brain:	n/a	chr14:67827040-67827051 chr14:67827040-67827051 chr14:67827017-67827028 chr14:67826704-67826718 chr14:67827023-67827032 chr14:67827019-67827028 chr14:67827040-67827054 chr14:67826573-67826580 chr14:67827017-67827028 chr14:67827042-67827051
4	JUND	chr14:67825625-67827817	H1-hESC	embryonic stem cell:	n/a	chr14:67827706-67827716 chr14:67827707-67827716 chr14:67827705-67827716 chr14:67827705-67827717 chr14:67827706-67827716 chr14:67827706-67827716 chr14:67827706-67827716
5	CHD1	chr14:67824371-67828204	IMR90	lung:	n/a	chr14:67826150-67826157
6	MXI1	chr14:67825339-67827877	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr14:67825804-67827027	SK-N-SH	brain:	n/a	n/a
8	TAF1	chr14:67825551-67826050	H1-hESC	embryonic stem cell:	n/a	n/a
9	PBX3	chr14:67825851-67826899	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr14:67825466-67827837	Hela-S3	cervix:	n/a	n/a
11	NRF1	chr14:67825698-67825908	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr14:67825754-67827832	Hela-S3	cervix:	n/a	chr14:67826150-67826157
13	KAT2A	chr14:67825800-67826069	Hela-S3	cervix:	n/a	n/a
14	SMARCC1	chr14:67825734-67827648	Hela-S3	cervix:	n/a	n/a
15	HA-E2F1	chr14:67825821-67827800	MCF-7	breast:	n/a	chr14:67827018-67827027 chr14:67827776-67827787 chr14:67827776-67827787 chr14:67826871-67826885 chr14:67826150-67826157
16	SIN3A	chr14:67825467-67827695	H1-hESC	embryonic stem cell:	n/a	n/a
17	HCFC1	chr14:67825382-67827870	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr14:67825704-67828181	Hela-S3	cervix:	n/a	n/a
19	MAZ	chr14:67825698-67827793	IMR90	lung:	n/a	chr14:67827706-67827715
20	POLR2A	chr14:67825437-67827776	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr14:67825631-67827746	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr14:67825601-67827754	IMR90	lung:	n/a	n/a
23	POLR2A	chr14:67825759-67825916	K562	blood:	n/a	n/a
24	ZKSCAN1	chr14:67825754-67827432	Hela-S3	cervix:	n/a	n/a
25	WRNIP1	chr14:67825844-67827752	GM12878	blood:	n/a	n/a
26	TBP	chr14:67825672-67825984	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr14:67825860-67827645	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr14:67825792-67827492	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr14:67825654-67825932	H1-hESC	embryonic stem cell:	n/a	n/a
30	GABPA	chr14:67825765-67827923	MCF-7	breast:	n/a	chr14:67827040-67827051 chr14:67827017-67827028 chr14:67826704-67826718 chr14:67827023-67827032 chr14:67827019-67827028 chr14:67827040-67827054 chr14:67826573-67826580 chr14:67827042-67827051
31	USF2	chr14:67825801-67827202	Hela-S3	cervix:	n/a	n/a
32	MAX	chr14:67825761-67825961	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr14:67825822-67828008	PBDE	blood:	n/a	n/a
34	TAF1	chr14:67825608-67827488	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr14:67825670-67826006	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr14:67825668-67827587	H1-hESC	embryonic stem cell:	n/a	n/a
37	MXI1	chr14:67825306-67827795	IMR90	lung:	n/a	n/a
38	SMARCC2	chr14:67825624-67827664	Hela-S3	cervix:	n/a	n/a
39	STAT3	chr14:67825824-67825962	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr14:67825535-67828724	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr14:67825822-67827630	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr14:67825641-67826033	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67825632..67826631-chr6:13574719..13575473,2	Hela-S3	cervix:
2	chr14:67705865..67709673-chr14:67825015..67827419,4	MCF-7	breast:
3	chr14:67825430..67827590-chr14:67846726..67850726,3	K562	blood:
4	chr14:67825454..67827897-chr14:68140364..68142418,2	MCF-7	breast:
5	chr14:67825491..67828010-chr14:67847426..67849597,2	MCF-7	breast:
6	chr14:67824897..67826602-chr14:67827148..67830067,2	K562	blood:

Variant related genes	Relation type
EIF2S1	TF binding region
ENSG00000124523	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000134001	Chromatin interaction
ENSG00000072415	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10129779	1.00[CEU][hapmap]
rs10131175	1.00[CEU][hapmap]
rs10131212	1.00[CEU][hapmap]
rs10135903	1.00[CEU][hapmap]
rs10137557	1.00[CEU][hapmap]
rs10138755	1.00[CEU][hapmap]
rs10138824	1.00[CEU][hapmap]
rs10140817	1.00[CEU][hapmap]
rs10144090	1.00[CEU][hapmap]
rs10144401	1.00[CEU][hapmap]
rs10144417	1.00[CEU][hapmap]
rs10145586	1.00[CEU][hapmap]
rs10146000	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10146663	1.00[CEU][hapmap]
rs10146722	1.00[CEU][hapmap]
rs10147852	1.00[CEU][hapmap]
rs10150902	1.00[CEU][hapmap]
rs10151464	1.00[CEU][hapmap]
rs10151760	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431718	1.00[CEU][hapmap]
rs1045060	1.00[CEU][hapmap]
rs10459453	1.00[CEU][hapmap]
rs1047350	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1073607	1.00[CEU][hapmap]
rs12323494	1.00[CEU][hapmap]
rs12323911	1.00[CEU][hapmap]
rs12586552	1.00[CEU][hapmap]
rs12589091	1.00[CEU][hapmap]
rs12589218	1.00[CEU][hapmap]
rs12589671	1.00[CEU][hapmap]
rs1318914	1.00[CEU][hapmap]
rs13379142	1.00[CEU][hapmap]
rs13379368	1.00[CEU][hapmap]
rs1535491	1.00[CEU][hapmap]
rs1536271	1.00[CEU][hapmap]
rs1536272	1.00[CEU][hapmap]
rs17104109	1.00[CEU][hapmap]
rs17248526	1.00[CEU][hapmap]
rs17248616	1.00[CEU][hapmap]
rs1885589	1.00[CEU][hapmap]
rs2031563	1.00[CEU][hapmap]
rs2057396	1.00[CEU][hapmap]
rs2146229	1.00[CEU][hapmap]
rs2146230	1.00[CEU][hapmap]
rs2236333	1.00[CEU][hapmap]
rs2274335	1.00[CEU][hapmap]
rs2274338	1.00[CEU][hapmap]
rs2296560	1.00[CEU][hapmap]
rs28799597	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759755	1.00[CEU][hapmap]
rs3818467	1.00[CEU][hapmap]
rs3818468	1.00[CEU][hapmap]
rs4058254	1.00[CEU][hapmap]
rs60806120	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149535	1.00[CEU][hapmap]
rs7152903	1.00[CEU][hapmap]
rs7156441	1.00[CEU][hapmap]
rs8006391	1.00[CEU][hapmap]
rs8006519	1.00[CEU][hapmap]
rs8007033	1.00[CEU][hapmap]
rs8007866	1.00[CEU][hapmap]
rs8008236	1.00[CEU][hapmap]
rs8008443	1.00[CEU][hapmap]
rs8008724	1.00[CEU][hapmap]
rs8009318	1.00[CEU][hapmap]
rs8014966	1.00[CEU][hapmap]
rs8015862	1.00[CEU][hapmap]
rs8016037	1.00[CEU][hapmap]
rs8021896	1.00[CEU][hapmap]
rs9743911	1.00[CEU][hapmap]

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	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 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	chr14:67823400-67828400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:67823800-67826000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:67823800-67828400	Active TSS	Right Ventricle	heart
4	chr14:67823800-67828600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:67824000-67826000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:67824000-67827800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr14:67824000-67828000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr14:67824200-67829600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:67824200-67829600	Active TSS	K562	blood
10	chr14:67824400-67826000	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr14:67824400-67826000	Enhancers	Spleen	Spleen
12	chr14:67824600-67828000	Active TSS	NHLF	lung
13	chr14:67824600-67828600	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr14:67824800-67828000	Active TSS	HSMM	muscle
15	chr14:67824800-67828200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr14:67825000-67826000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr14:67825000-67826000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr14:67825000-67826000	Flanking Active TSS	Dnd41	blood
19	chr14:67825200-67826000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr14:67825200-67826000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:67825200-67826000	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr14:67825200-67826000	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr14:67825200-67826000	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr14:67825200-67826000	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr14:67825200-67826000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr14:67825200-67826000	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr14:67825200-67826000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr14:67825200-67826000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr14:67825200-67826000	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr14:67825200-67826000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr14:67825200-67826200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:67825200-67826200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr14:67825200-67826400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr14:67825200-67826400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:67825200-67828000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr14:67825200-67828000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:67825200-67828000	Active TSS	A549	lung
38	chr14:67825200-67828000	Active TSS	Hela-S3	cervix
39	chr14:67825200-67828200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr14:67825200-67828400	Active TSS	H1 Cell Line	embryonic stem cell
41	chr14:67825200-67828800	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr14:67825400-67826000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:67825400-67826000	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr14:67825400-67826000	Flanking Active TSS	Fetal Brain Male	brain
45	chr14:67825400-67826000	Flanking Active TSS	Fetal Lung	lung
46	chr14:67825400-67826000	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr14:67825400-67826000	Flanking Active TSS	Fetal Stomach	stomach
48	chr14:67825400-67826000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr14:67825400-67826000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr14:67825400-67826200	Flanking Active TSS	Primary T cells from cord blood	blood

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