Variant report

Variant	rs8006302
Chromosome Location	chr14:21906063-21906064
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	FOXA1	chr14:21905256-21906349	HepG2	liver:	n/a	chr14:21906041-21906053
2	CHD2	chr14:21905283-21906074	HepG2	liver:	n/a	chr14:21905447-21905457 chr14:21905442-21905452
3	POLR2A	chr14:21905139-21906214	HepG2	liver:	n/a	n/a
4	NFIC	chr14:21905184-21906213	HepG2	liver:	n/a	n/a
5	MYBL2	chr14:21905069-21906295	HepG2	liver:	n/a	n/a
6	MAFK	chr14:21905976-21906163	HepG2	liver:	n/a	n/a
7	MBD4	chr14:21905042-21906294	HepG2	liver:	n/a	n/a
8	HEY1	chr14:21905134-21906304	HepG2	liver:	n/a	n/a
9	MBD4	chr14:21905230-21906113	HepG2	liver:	n/a	n/a
10	MXI1	chr14:21905135-21906089	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:21906052-21906193	HepG2	liver:	n/a	n/a
12	HCFC1	chr14:21904974-21906340	Hela-S3	cervix:	n/a	n/a
13	KAP1	chr14:21905368-21906221	HEK293	kidney:	n/a	n/a
14	POLR2A	chr14:21905224-21906105	MCF10A-Er-Src	breast:	n/a	n/a
15	FOXA2	chr14:21905834-21906295	HepG2	liver:	n/a	chr14:21906041-21906053
16	SP2	chr14:21905144-21906219	HepG2	liver:	n/a	chr14:21905408-21905423 chr14:21905442-21905457
17	TEAD4	chr14:21905200-21906185	HepG2	liver:	n/a	n/a
18	CREB1	chr14:21905003-21906316	HepG2	liver:	n/a	n/a
19	WRNIP1	chr14:21905082-21906136	GM12878	blood:	n/a	n/a
20	POLR2A	chr14:21904969-21906303	HepG2	liver:	n/a	n/a
21	MTA3	chr14:21904647-21906104	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:21905292-21906244	HepG2	liver:	n/a	n/a
23	BHLHE40	chr14:21905128-21906138	HepG2	liver:	n/a	n/a
24	NFIC	chr14:21905228-21906161	HepG2	liver:	n/a	n/a
25	MAZ	chr14:21904559-21906228	IMR90	lung:	n/a	n/a
26	REST	chr14:21904779-21906272	H1-neurons	neurons:	n/a	n/a
27	MYBL2	chr14:21905097-21906395	HepG2	liver:	n/a	n/a
28	FOSL2	chr14:21905118-21906144	HepG2	liver:	n/a	chr14:21905366-21905375 chr14:21905445-21905454
29	POLR2A	chr14:21905951-21906249	SK-N-SH	brain:	n/a	n/a
30	FOXA1	chr14:21905715-21906266	HepG2	liver:	n/a	chr14:21906041-21906053
31	SMC3	chr14:21905418-21906226	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21903199..21908176-chr14:21922150..21927422,17	MCF-7	breast:
2	chr14:21902087..21907117-chr14:21919849..21925728,16	MCF-7	breast:
3	chr14:21874917..21880880-chr14:21901855..21906138,6	MCF-7	breast:
4	chr14:21904269..21906743-chr14:21992458..21995215,2	K562	blood:
5	chr14:21904171..21908174-chr14:21922677..21925847,6	K562	blood:
6	chr14:21903666..21907303-chr14:21944223..21946943,4	K562	blood:
7	chr14:21850845..21853690-chr14:21904139..21906102,2	K562	blood:
8	chr14:21903062..21910356-chr14:21920914..21926084,11	K562	blood:

Variant related genes	Relation type
CHD8	TF binding region
ENSG00000100888	Chromatin interaction
ENSG00000165821	Chromatin interaction
ENSG00000129472	Chromatin interaction
ENSG00000092201	Chromatin interaction
ENSG00000260830	Chromatin interaction
ENSG00000092203	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs17104027	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17105120	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs56085953	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57764234	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57968228	0.88[EUR][1000 genomes]
rs58673747	0.94[EUR][1000 genomes]
rs58981052	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60262326	1.00[EUR][1000 genomes]
rs61752837	0.81[EUR][1000 genomes]
rs61971521	0.82[EUR][1000 genomes]
rs61971523	0.81[EUR][1000 genomes]
rs61971524	0.88[EUR][1000 genomes]
rs61971525	0.81[EUR][1000 genomes]
rs61973163	0.88[EUR][1000 genomes]
rs61973164	0.88[EUR][1000 genomes]
rs61973165	0.88[EUR][1000 genomes]
rs61973169	0.88[EUR][1000 genomes]
rs61973170	0.88[EUR][1000 genomes]
rs61973172	0.81[EUR][1000 genomes]
rs61973173	0.88[EUR][1000 genomes]
rs61973174	0.88[EUR][1000 genomes]
rs61973175	0.88[EUR][1000 genomes]
rs61973178	0.88[EUR][1000 genomes]
rs61973179	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61973181	0.88[EUR][1000 genomes]
rs61973182	0.88[EUR][1000 genomes]
rs61973183	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61973186	1.00[EUR][1000 genomes]
rs61973188	0.94[EUR][1000 genomes]
rs61973189	0.94[EUR][1000 genomes]
rs61973190	0.88[EUR][1000 genomes]
rs61973191	0.94[EUR][1000 genomes]
rs61973192	0.94[EUR][1000 genomes]
rs61973193	0.94[EUR][1000 genomes]
rs61977522	0.82[EUR][1000 genomes]
rs61977523	0.82[EUR][1000 genomes]
rs7141803	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs7160222	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8016474	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs8021793	0.82[EUR][1000 genomes]
rs8022558	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs8023081	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs9944063	1.00[CEU][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS 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	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21904200-21906200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:21904200-21906200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:21904200-21906200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:21904200-21906200	Active TSS	Psoas Muscle	Psoas
5	chr14:21904400-21906200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:21904400-21906400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:21904600-21906200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:21904600-21906200	Active TSS	Esophagus	oesophagus
9	chr14:21904600-21906200	Active TSS	Fetal Muscle Trunk	muscle
10	chr14:21904600-21906200	Active TSS	Ovary	ovary
11	chr14:21904800-21906200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr14:21904800-21906400	Active TSS	Colon Smooth Muscle	Colon
13	chr14:21904800-21906400	Active TSS	HSMM	muscle
14	chr14:21905000-21906400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:21905400-21906200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr14:21905600-21906200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr14:21905600-21906200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:21905600-21906200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr14:21905600-21906200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr14:21905600-21906200	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr14:21905600-21906200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr14:21905600-21906200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:21905600-21906200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:21905600-21906200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:21905600-21906200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr14:21905600-21906200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr14:21905600-21906200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:21905600-21906200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:21905600-21906200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:21905600-21906200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr14:21905600-21906200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr14:21905600-21906200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:21905600-21906200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:21905600-21906200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:21905600-21906200	Flanking Active TSS	Fetal Brain Male	brain
36	chr14:21905600-21906200	Flanking Active TSS	Fetal Lung	lung
37	chr14:21905600-21906200	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr14:21905600-21906200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr14:21905600-21906200	Flanking Active TSS	Hela-S3	cervix
40	chr14:21905600-21906200	Flanking Active TSS	HMEC	breast
41	chr14:21905600-21906200	Flanking Active TSS	HSMMtube	muscle
42	chr14:21905600-21906200	Flanking Active TSS	HUVEC	blood vessel
43	chr14:21905600-21906200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr14:21905600-21906200	Flanking Active TSS	NH-A	brain
45	chr14:21905600-21906200	Flanking Active TSS	NHEK	skin
46	chr14:21905600-21906200	Flanking Active TSS	Osteobl	bone
47	chr14:21905600-21906400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr14:21905600-21906400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:21905600-21906400	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr14:21905600-21910400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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