Variant report

Variant	rs1469121
Chromosome Location	chr16:75290251-75290252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:75290071-75290360	HepG2	liver:	n/a	n/a
2	CTCF	chr16:75290180-75290330	HUVEC	blood vessel:	n/a	n/a
3	CBX3	chr16:75289950-75290335	K562	blood:	n/a	n/a
4	SRF	chr16:75290067-75290322	HepG2	liver:	n/a	chr16:75290189-75290207
5	CTCF	chr16:75290120-75290270	GM12875	blood:	n/a	n/a
6	CTCF	chr16:75290034-75290451	K562	blood:	n/a	n/a
7	CTCF	chr16:75290180-75290330	GM06990	blood:	n/a	n/a
8	CTCF	chr16:75290120-75290270	NB4	blood:	n/a	n/a
9	POLR2A	chr16:75289904-75291321	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr16:75290133-75290302	K562	blood:	n/a	n/a
11	MYC	chr16:75290144-75290297	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:75289992-75290471	HepG2	liver:	n/a	n/a
13	JUN	chr16:75290044-75290546	K562	blood:	n/a	n/a
14	YY1	chr16:75290002-75290404	K562	blood:	n/a	n/a
15	CTCF	chr16:75290040-75290310	HUVEC	blood vessel:	n/a	n/a
16	RAD21	chr16:75290140-75290253	K562	blood:	n/a	n/a
17	MAX	chr16:75290120-75290264	K562	blood:	n/a	n/a
18	RAD21	chr16:75289952-75290431	HepG2	liver:	n/a	chr16:75290038-75290047
19	ZBTB7A	chr16:75290148-75290402	K562	blood:	n/a	n/a
20	CTCF	chr16:75290091-75290332	K562	blood:	n/a	n/a
21	TAF1	chr16:75289967-75290361	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr16:75290180-75290330	HepG2	liver:	n/a	n/a
23	CTCF	chr16:75290140-75290290	K562	blood:	n/a	n/a
24	CTCF	chr16:75290140-75290290	HBMEC	blood vessel:	n/a	n/a
25	RFX5	chr16:75290094-75290289	HepG2	liver:	n/a	n/a
26	CTCF	chr16:75290140-75290290	HepG2	liver:	n/a	n/a
27	RAD21	chr16:75290033-75290401	HepG2	liver:	n/a	chr16:75290038-75290047
28	CTCF	chr16:75290140-75290290	GM12873	blood:	n/a	n/a
29	CTCF	chr16:75290140-75290290	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr16:75290087-75290378	IMR90	lung:	n/a	n/a
31	RAD21	chr16:75290131-75290417	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYBL2	chr16:75289832-75290446	HepG2	liver:	n/a	n/a
33	RAD21	chr16:75290059-75290389	SK-N-SH_RA	brain:	n/a	n/a
34	CHD2	chr16:75290083-75290378	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr16:75290131-75290265	GM12891	blood:	n/a	n/a
36	RAD21	chr16:75289978-75290379	HepG2	liver:	n/a	chr16:75290038-75290047
37	SRF	chr16:75290061-75290318	HepG2	liver:	n/a	chr16:75290189-75290207
38	POLR2A	chr16:75289782-75290388	HUVEC	blood vessel:	n/a	n/a
39	JUND	chr16:75290112-75290340	K562	blood:	n/a	n/a
40	MAX	chr16:75290097-75290258	K562	blood:	n/a	n/a
41	POLR2A	chr16:75289998-75290352	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr16:75290142-75290306	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr16:75290002-75290410	H1-hESC	embryonic stem cell:	n/a	n/a
44	ZBTB7A	chr16:75290227-75290367	HepG2	liver:	n/a	n/a
45	EGR1	chr16:75290118-75290324	K562	blood:	n/a	chr16:75290263-75290276 chr16:75290267-75290277
46	CTCF	chr16:75290160-75290310	WERI-Rb-1	eye:	n/a	n/a
47	RAD21	chr16:75290068-75290390	IMR90	lung:	n/a	n/a
48	NFIC	chr16:75290048-75290371	HepG2	liver:	n/a	n/a
49	CTCF	chr16:75290179-75290270	GM19239	blood:	n/a	n/a
50	CTCF	chr16:75290180-75290330	HCPEpiC	choroid plexus:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75288495..75290514-chr16:75396856..75398580,2	MCF-7	breast:
2	chr16:75288586..75292639-chr16:75337750..75340619,6	MCF-7	breast:

No data

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000153774	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11645408	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11647214	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12932495	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35091778	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784938	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888367	0.95[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs5842	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
16	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
17	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
18	esv1843498	chr16:75271642-75296844	Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1469121	ADAT1	cis	cerebellum	SCAN
rs1469121	CEACAM18	trans	lymphoblastoid	seeQTL
rs1469121	MLKL	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75285600-75291600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:75285600-75292400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:75285600-75293000	Enhancers	Lung	lung
4	chr16:75285600-75293000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr16:75285600-75293200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:75285800-75292800	Enhancers	Right Atrium	heart
7	chr16:75286000-75290400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:75286000-75290600	Enhancers	Right Ventricle	heart
9	chr16:75286000-75292000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:75286000-75292000	Enhancers	Esophagus	oesophagus
11	chr16:75286000-75292200	Enhancers	Stomach Mucosa	stomach
12	chr16:75286000-75292200	Enhancers	NHEK	skin
13	chr16:75286000-75292400	Enhancers	Fetal Intestine Large	intestine
14	chr16:75286000-75293000	Enhancers	Left Ventricle	heart
15	chr16:75286000-75293000	Enhancers	Ovary	ovary
16	chr16:75286000-75293200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:75286000-75293200	Enhancers	Fetal Lung	lung
18	chr16:75286000-75293200	Enhancers	NHDF-Ad	bronchial
19	chr16:75286000-75293400	Enhancers	HMEC	breast
20	chr16:75286000-75297400	Enhancers	Psoas Muscle	Psoas
21	chr16:75286000-75297600	Genic enhancers	Fetal Intestine Small	intestine
22	chr16:75286000-75298000	Genic enhancers	Fetal Stomach	stomach
23	chr16:75286200-75290400	Enhancers	HSMMtube	muscle
24	chr16:75286200-75290800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:75286200-75291000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr16:75286200-75292200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:75286200-75293000	Enhancers	Brain Substantia Nigra	brain
28	chr16:75286200-75293200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr16:75286200-75293200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr16:75286200-75293200	Enhancers	Fetal Heart	heart
31	chr16:75286200-75293400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr16:75286400-75290400	Weak transcription	Fetal Brain Male	brain
33	chr16:75286400-75290800	Enhancers	Brain Cingulate Gyrus	brain
34	chr16:75286400-75291200	Enhancers	Fetal Muscle Leg	muscle
35	chr16:75286400-75293000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr16:75286400-75293200	Enhancers	Brain Anterior Caudate	brain
37	chr16:75286600-75290400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr16:75286600-75293400	Enhancers	Spleen	Spleen
39	chr16:75287200-75290400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr16:75287200-75290600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:75287400-75291600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr16:75287600-75293200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:75287800-75291000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr16:75287800-75291000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr16:75287800-75291600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:75287800-75292200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr16:75287800-75292600	Enhancers	HSMM	muscle
48	chr16:75287800-75292800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:75287800-75292800	Enhancers	NH-A	brain
50	chr16:75287800-75293000	Enhancers	Rectal Mucosa Donor 29	rectum

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