Variant report

Variant	rs73571905
Chromosome Location	chr14:21573051-21573052
allele	A/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	MYBL2	chr14:21571143-21573397	HepG2	liver:	n/a	n/a
2	SREBP1	chr14:21571414-21573132	GM12878	blood:	n/a	chr14:21572662-21572673
3	RAD21	chr14:21572460-21573073	ECC-1	luminal epithelium:	n/a	chr14:21572595-21572609 chr14:21572588-21572602
4	RAD21	chr14:21572217-21573070	HepG2	liver:	n/a	chr14:21572595-21572609 chr14:21572588-21572602
5	KAP1	chr14:21571610-21573311	HEK293	kidney:	n/a	chr14:21571867-21571875 chr14:21572209-21572218
6	POLR2A	chr14:21571420-21573825	SK-N-MC	brain:	n/a	n/a
7	PML	chr14:21571581-21573131	GM12878	blood:	n/a	chr14:21571867-21571875 chr14:21572209-21572218
8	CTCF	chr14:21571541-21573234	HCT-116	colon:	n/a	chr14:21572589-21572602 chr14:21573064-21573085
9	CTCF	chr14:21571581-21573172	HCT-116	colon:	n/a	chr14:21572589-21572602 chr14:21573064-21573085
10	ATF2	chr14:21571561-21573073	GM12878	blood:	n/a	n/a
11	CREB1	chr14:21571373-21573228	HepG2	liver:	n/a	n/a
12	MYBL2	chr14:21571472-21573141	HepG2	liver:	n/a	n/a
13	HEY1	chr14:21571252-21573501	HepG2	liver:	n/a	chr14:21572382-21572397
14	JUN	chr14:21571438-21573305	K562	blood:	n/a	chr14:21572211-21572219 chr14:21572209-21572221 chr14:21573119-21573133
15	POLR2A	chr14:21571253-21573178	Hela-S3	cervix:	n/a	n/a
16	SMC3	chr14:21571269-21573240	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr14:21571484-21573065	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr14:21571669-21573171	PFSK-1	brain:	n/a	n/a
19	RAD21	chr14:21571401-21573397	SK-N-SH	brain:	n/a	chr14:21572595-21572609 chr14:21572588-21572602 chr14:21573063-21573082
20	TCF12	chr14:21571494-21573131	A549	lung:	n/a	chr14:21571566-21571573
21	ELF1	chr14:21571289-21573065	MCF-7	breast:	n/a	chr14:21572386-21572395
22	POLR2A	chr14:21571286-21573203	HepG2	liver:	n/a	n/a
23	FOXM1	chr14:21571615-21573099	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:21571593-21573110	HL-60	blood:	n/a	n/a
25	FOXM1	chr14:21571378-21573076	MCF-7	breast:	n/a	n/a
26	CREB1	chr14:21571242-21573123	HepG2	liver:	n/a	n/a
27	MAX	chr14:21571530-21573089	MCF-7	breast:	n/a	chr14:21572210-21572219
28	CTCF	chr14:21571533-21573199	MCF-7	breast:	n/a	chr14:21572589-21572602 chr14:21573064-21573085
29	REST	chr14:21570711-21573298	H1-neurons	neurons:	n/a	chr14:21572162-21572176 chr14:21571886-21571906 chr14:21573007-21573025 chr14:21571887-21571905
30	MAX	chr14:21571090-21573149	A549	lung:	n/a	chr14:21572210-21572219
31	POLR2A	chr14:21571320-21573056	H1-neurons	neurons:	n/a	n/a
32	TBL1XR1	chr14:21571628-21573247	GM12878	blood:	n/a	n/a
33	SIN3AK20	chr14:21571404-21573064	MCF-7	breast:	n/a	n/a
34	NR2F2	chr14:21571558-21573064	K562	blood:	n/a	chr14:21572454-21572469
35	SMARCC1	chr14:21570347-21573203	Hela-S3	cervix:	n/a	chr14:21572210-21572219 chr14:21571815-21571824
36	POLR2A	chr14:21571562-21573097	GM12878	blood:	n/a	n/a
37	HEY1	chr14:21571157-21573175	HepG2	liver:	n/a	chr14:21572382-21572397
38	POLR2A	chr14:21571568-21573210	GM12892	blood:	n/a	n/a
39	SIX5	chr14:21571371-21573082	A549	lung:	n/a	chr14:21571817-21571826 chr14:21571815-21571824
40	MBD4	chr14:21571262-21573093	HepG2	liver:	n/a	n/a
41	CTCF	chr14:21572421-21573095	HepG2	liver:	n/a	chr14:21572589-21572602 chr14:21573064-21573085
42	SP1	chr14:21571430-21573100	A549	lung:	n/a	chr14:21571913-21571922 chr14:21572305-21572319 chr14:21571973-21571984 chr14:21572240-21572249
43	KAP1	chr14:21571679-21573242	U2OS	brain:	n/a	chr14:21571867-21571875 chr14:21572209-21572218
44	POLR2A	chr14:21571733-21573098	ECC-1	luminal epithelium:	n/a	n/a
45	CTCF	chr14:21571123-21573645	A549	lung:	n/a	chr14:21572589-21572602 chr14:21573064-21573085
46	POLR2A	chr14:21571584-21573289	HCT-116	colon:	n/a	n/a
47	POLR2A	chr14:21571592-21573104	PFSK-1	brain:	n/a	n/a
48	ELF1	chr14:21571295-21573097	MCF-7	breast:	n/a	chr14:21572386-21572395
49	MAX	chr14:21571197-21573276	MCF-7	breast:	n/a	chr14:21572210-21572219
50	POLR2A	chr14:21571190-21573217	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21490094..21494864-chr14:21570311..21573560,5	MCF-7	breast:
2	chr14:21560165..21562060-chr14:21571430..21574537,42	MCF-7	breast:
3	chr14:21548790..21550824-chr14:21570326..21573166,2	MCF-7	breast:
4	chr14:21570872..21573574-chr14:21575032..21578187,3	MCF-7	breast:
5	chr14:21535299..21541334-chr14:21568487..21576770,16	MCF-7	breast:
6	chr14:21535250..21540469-chr14:21570413..21576715,8	K562	blood:
7	chr14:21572213..21574693-chr17:56708000..56709846,2	MCF-7	breast:
8	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178107	TF binding region
ZNF219	TF binding region
ENSG00000258604	Chromatin interaction
ENSG00000165795	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000178107	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000179636	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2274682	0.82[ASN][1000 genomes]
rs28645145	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4982409	0.91[ASN][1000 genomes]
rs4982411	0.91[ASN][1000 genomes]
rs57471121	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61405772	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73571904	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73571913	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8006832	0.91[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	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	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	57 gene(s)	inside rSNPs	diseases
8	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21571400-21573200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr14:21571600-21573200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:21571600-21573200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr14:21571600-21573200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:21571600-21573200	Active TSS	Brain Germinal Matrix	brain
6	chr14:21571800-21573200	Active TSS	Fetal Brain Male	brain
7	chr14:21572200-21573200	Flanking Active TSS	HMEC	breast
8	chr14:21572200-21573400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr14:21572400-21573200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:21572400-21573200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr14:21572400-21573200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:21572400-21573200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:21572400-21573200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:21572400-21573200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr14:21572400-21573200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr14:21572400-21573200	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr14:21572400-21573400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:21572400-21573400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr14:21572400-21573400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr14:21572400-21575400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr14:21572600-21573200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:21572600-21573200	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr14:21572600-21573200	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr14:21572600-21573200	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr14:21572600-21573400	Flanking Active TSS	Liver	Liver
26	chr14:21572600-21573400	Flanking Active TSS	K562	blood
27	chr14:21572600-21573600	Flanking Active TSS	Hela-S3	cervix
28	chr14:21572600-21574600	Weak transcription	Lung	lung
29	chr14:21572800-21573200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:21572800-21573200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:21572800-21573200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:21572800-21573200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:21572800-21573200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr14:21572800-21573200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr14:21572800-21573200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr14:21572800-21573200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:21572800-21573200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:21572800-21573200	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr14:21572800-21573200	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr14:21572800-21573200	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr14:21572800-21573200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:21572800-21573200	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr14:21572800-21573200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr14:21572800-21573200	Flanking Active TSS	NHDF-Ad	bronchial
45	chr14:21572800-21573400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:21572800-21573400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr14:21572800-21573400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr14:21572800-21573400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:21572800-21573400	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr14:21572800-21573400	Flanking Active TSS	Fetal Lung	lung

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