Variant report

Variant	rs7159957
Chromosome Location	chr14:71220499-71220500
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	HDAC2	chr14:71220183-71220748	HepG2	liver:	n/a	n/a
2	NR2F2	chr14:71220053-71220691	HepG2	liver:	n/a	chr14:71220299-71220314
3	MXI1	chr14:71220337-71220653	HepG2	liver:	n/a	n/a
4	RAD21	chr14:71220272-71220711	HepG2	liver:	n/a	n/a
5	REST	chr14:71220393-71220759	ECC-1	luminal epithelium:	n/a	chr14:71220584-71220593
6	TEAD4	chr14:71220265-71220929	HepG2	liver:	n/a	chr14:71220773-71220782
7	FOXA2	chr14:71220126-71220664	HepG2	liver:	n/a	n/a
8	FOXA1	chr14:71220065-71220786	HepG2	liver:	n/a	n/a
9	FOXA1	chr14:71220034-71220692	HepG2	liver:	n/a	n/a
10	NR3C1	chr14:71220118-71220690	A549	lung:	n/a	n/a
11	SP1	chr14:71220042-71220821	A549	lung:	n/a	n/a
12	FOXA2	chr14:71220080-71220756	A549	lung:	n/a	n/a
13	MYBL2	chr14:71220063-71220770	HepG2	liver:	n/a	n/a
14	EP300	chr14:71220092-71220721	HepG2	liver:	n/a	n/a
15	FOXA1	chr14:71220028-71220727	HepG2	liver:	n/a	n/a
16	MYBL2	chr14:71220170-71220821	HepG2	liver:	n/a	n/a
17	JUND	chr14:71220180-71220601	HepG2	liver:	n/a	n/a
18	EP300	chr14:71220034-71220887	A549	lung:	n/a	n/a
19	GATA3	chr14:71220151-71220808	A549	lung:	n/a	n/a
20	EP300	chr14:71220042-71220903	A549	lung:	n/a	n/a
21	ARID3A	chr14:71220371-71220825	HepG2	liver:	n/a	n/a
22	NR3C1	chr14:71220215-71220588	A549	lung:	n/a	n/a
23	REST	chr14:71220177-71220881	A549	lung:	n/a	chr14:71220584-71220593
24	RAD21	chr14:71220249-71220707	A549	lung:	n/a	n/a
25	NFIC	chr14:71220196-71220710	HepG2	liver:	n/a	n/a
26	NR3C1	chr14:71220192-71220574	A549	lung:	n/a	n/a
27	REST	chr14:71220456-71220717	A549	lung:	n/a	chr14:71220584-71220593
28	FOXA1	chr14:71220057-71220682	HepG2	liver:	n/a	n/a
29	EP300	chr14:71220269-71220744	HepG2	liver:	n/a	n/a
30	SP1	chr14:71220127-71220791	A549	lung:	n/a	n/a
31	SP1	chr14:71220066-71220753	HepG2	liver:	n/a	n/a
32	NR3C1	chr14:71220162-71220642	A549	lung:	n/a	n/a
33	EP300	chr14:71220161-71220812	HepG2	liver:	n/a	n/a
34	NR2F2	chr14:71219972-71220827	HepG2	liver:	n/a	chr14:71220299-71220314
35	FOXA2	chr14:71220082-71220766	A549	lung:	n/a	n/a
36	TCF12	chr14:71219807-71220745	A549	lung:	n/a	n/a
37	POLR2A	chr14:71220399-71220562	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr14:71220113-71220876	A549	lung:	n/a	n/a
39	HDAC2	chr14:71220100-71220613	HepG2	liver:	n/a	n/a
40	TCF7L2	chr14:71220127-71220521	HepG2	liver:	n/a	chr14:71220313-71220329 chr14:71220313-71220329 chr14:71220317-71220327 chr14:71220316-71220325
41	MAX	chr14:71220158-71220784	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71218602..71225147-chr14:71276029..71280278,8	MCF-7	breast:
2	chr14:71189314..71191908-chr14:71220289..71222021,3	MCF-7	breast:

Variant related genes	Relation type
MAP3K9	TF binding region
ENSG00000006432	Chromatin interaction
ENSG00000259153	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs8008415	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS 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 target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71186000-71221600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:71186000-71221600	Weak transcription	Hela-S3	cervix
3	chr14:71192600-71221800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:71194000-71222000	Weak transcription	HSMMtube	muscle
5	chr14:71194400-71221600	Weak transcription	Left Ventricle	heart
6	chr14:71194600-71221600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:71197000-71228800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:71198400-71223400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:71200600-71224200	Weak transcription	Spleen	Spleen
10	chr14:71201200-71228000	Weak transcription	Colonic Mucosa	Colon
11	chr14:71201600-71220600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:71204800-71229400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:71206800-71221000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:71206800-71231600	Weak transcription	Brain Anterior Caudate	brain
15	chr14:71207000-71221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:71207000-71221800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:71209200-71229400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:71209400-71221600	Weak transcription	Esophagus	oesophagus
19	chr14:71209400-71238200	Weak transcription	Fetal Stomach	stomach
20	chr14:71209400-71238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:71209400-71238400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:71209600-71229000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr14:71210800-71220600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:71212000-71238200	Weak transcription	Fetal Intestine Small	intestine
25	chr14:71214400-71222000	Weak transcription	Psoas Muscle	Psoas
26	chr14:71215600-71221800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:71215600-71227000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:71215600-71227400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:71215800-71222000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:71215800-71227000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:71215800-71232200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:71216200-71226800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:71216400-71221800	Weak transcription	Fetal Brain Female	brain
34	chr14:71216400-71238200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:71216600-71222200	Weak transcription	Primary T cells from cord blood	blood
36	chr14:71216600-71224600	Weak transcription	Placenta	Placenta
37	chr14:71216600-71245800	Weak transcription	Brain Germinal Matrix	brain
38	chr14:71216800-71220800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr14:71216800-71222000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:71216800-71225600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr14:71216800-71226400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:71216800-71238400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:71217000-71222000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:71217200-71221800	Weak transcription	Primary B cells from cord blood	blood
45	chr14:71218600-71220800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:71219000-71220600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:71219000-71220800	Enhancers	Fetal Lung	lung
48	chr14:71219000-71221000	Enhancers	Pancreas	Pancrea
49	chr14:71219000-71223600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:71219200-71220600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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