Variant report

Variant	rs11861164
Chromosome Location	chr16:31519048-31519049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr16:31518994-31519969	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr16:31518957-31520076	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:31518169-31520242	HepG2	liver:	n/a	n/a
4	SMC3	chr16:31519017-31520084	Hela-S3	cervix:	n/a	n/a
5	HEY1	chr16:31519023-31519246	K562	blood:	n/a	n/a
6	POLR2A	chr16:31519017-31520815	K562	blood:	n/a	n/a
7	POLR2A	chr16:31519018-31520031	NB4	blood:	n/a	n/a
8	CTCF	chr16:31518940-31519090	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:31519009-31520177	MCF-7	breast:	n/a	n/a
10	CTCF	chr16:31519040-31519190	HCPEpiC	choroid plexus:	n/a	n/a
11	HEY1	chr16:31518908-31520006	HepG2	liver:	n/a	chr16:31519714-31519729 chr16:31519851-31519866 chr16:31519875-31519890
12	POLR2A	chr16:31518931-31520154	U87	brain:	n/a	n/a
13	MAZ	chr16:31518362-31520650	IMR90	lung:	n/a	n/a
14	POLR2A	chr16:31518962-31520022	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:31518923-31520253	GM12878	blood:	n/a	n/a
16	CTCF	chr16:31519020-31519170	AG09309	skin:	n/a	n/a
17	MYC	chr16:31518916-31520002	K562	blood:	n/a	n/a
18	POLR2A	chr16:31518954-31520133	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr16:31519007-31520121	MCF-7	breast:	n/a	n/a
20	POLR2A	chr16:31518910-31520234	U87	brain:	n/a	n/a
21	POLR2A	chr16:31518306-31520426	IMR90	lung:	n/a	n/a
22	SIN3AK20	chr16:31519034-31520027	K562	blood:	n/a	n/a
23	CTCF	chr16:31519000-31519150	GM12873	blood:	n/a	n/a
24	POLR2A	chr16:31518917-31520125	HL-60	blood:	n/a	n/a
25	HEY1	chr16:31518655-31520087	K562	blood:	n/a	chr16:31519714-31519729 chr16:31519851-31519866 chr16:31519875-31519890
26	POLR2A	chr16:31518928-31520197	GM12892	blood:	n/a	n/a
27	MYC	chr16:31518803-31519210	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr16:31519001-31519499	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr16:31518680-31520510	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr16:31518709-31520180	GM12878	blood:	n/a	n/a
31	TAF1	chr16:31519045-31520052	ECC-1	luminal epithelium:	n/a	n/a
32	GABPA	chr16:31519014-31520587	MCF-7	breast:	n/a	chr16:31519300-31519309
33	POLR2A	chr16:31518930-31521337	K562	blood:	n/a	n/a
34	ZBTB7A	chr16:31519046-31519979	ECC-1	luminal epithelium:	n/a	n/a
35	SIN3AK20	chr16:31519037-31519488	H1-hESC	embryonic stem cell:	n/a	n/a
36	HEY1	chr16:31518976-31520117	HepG2	liver:	n/a	chr16:31519714-31519729 chr16:31519851-31519866 chr16:31519875-31519890
37	YY1	chr16:31519033-31520027	HepG2	liver:	n/a	chr16:31519300-31519309 chr16:31519799-31519813 chr16:31519718-31519729
38	POLR2A	chr16:31518953-31520059	ECC-1	luminal epithelium:	n/a	n/a
39	SIN3A	chr16:31518840-31520197	H1-hESC	embryonic stem cell:	n/a	n/a
40	MXI1	chr16:31518865-31520071	HepG2	liver:	n/a	n/a
41	TBL1XR1	chr16:31518845-31519219	K562	blood:	n/a	n/a
42	POLR2A	chr16:31518806-31520107	K562	blood:	n/a	n/a
43	CTBP2	chr16:31518977-31520011	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr16:31518968-31520463	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr16:31518896-31520537	HepG2	liver:	n/a	n/a
46	REST	chr16:31518618-31520495	H1-neurons	neurons:	n/a	chr16:31520427-31520447 chr16:31520427-31520447
47	POLR2A	chr16:31518729-31520523	GM12878	blood:	n/a	n/a
48	POLR2A	chr16:31518762-31519505	K562	blood:	n/a	n/a
49	MXI1	chr16:31518550-31520900	SK-N-SH	brain:	n/a	n/a
50	REST	chr16:31519017-31520066	H1-neurons	neurons:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31517279..31520874-chr16:31722197..31727504,6	MCF-7	breast:
2	chr1:153507893..153508609-chr16:31518849..31519689,2	Hela-S3	cervix:
3	chr16:31494997..31499043-chr16:31517756..31521950,4	K562	blood:
4	chr16:31497480..31508766-chr16:31514543..31521176,19	MCF-7	breast:
5	chr16:31494997..31497772-chr16:31517756..31520591,2	K562	blood:
6	chr16:31482449..31485901-chr16:31517810..31523430,5	MCF-7	breast:
7	chr16:31516310..31522725-chr16:31722480..31728998,9	MCF-7	breast:
8	chr16:30959582..30963121-chr16:31518179..31521498,3	K562	blood:
9	chr11:62606772..62609069-chr16:31518624..31521076,2	MCF-7	breast:
10	chr16:31517756..31521127-chr16:31538452..31541350,5	K562	blood:
11	chr16:31468357..31473774-chr16:31516772..31522690,14	K562	blood:
12	chr16:31517850..31520614-chr16:31538452..31541283,3	K562	blood:
13	chr16:31463366..31472153-chr16:31517209..31524290,14	MCF-7	breast:
14	chr16:31517989..31521434-chr16:31710261..31713968,8	MCF-7	breast:
15	chr16:31516846..31519269-chr16:31522678..31524630,2	MCF-7	breast:
16	chr16:31518688..31521069-chr16:31884964..31886817,2	MCF-7	breast:
17	chr16:31468899..31473390-chr16:31518411..31522821,12	MCF-7	breast:
18	chr16:31518488..31520792-chr16:31884835..31887460,2	MCF-7	breast:
19	chr1:153948948..153951767-chr16:31518333..31519994,2	MCF-7	breast:
20	chr16:31464355..31466816-chr16:31518466..31521334,2	K562	blood:
21	chr16:31468972..31472729-chr16:31517678..31523478,11	K562	blood:
22	chr16:31518385..31519907-chr9:131936177..131938099,2	MCF-7	breast:
23	chr16:31518205..31521975-chr16:31709546..31713435,8	MCF-7	breast:
24	chr16:31518111..31520799-chr16:31691550..31694170,2	MCF-7	breast:
25	chr16:31483184..31487045-chr16:31517740..31519918,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260625	TF binding region
ENSG00000185947	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000268050	Chromatin interaction
ENSG00000260631	Chromatin interaction
ENSG00000260568	Chromatin interaction
ENSG00000261474	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000140682	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000197302	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000260740	Chromatin interaction
ENSG00000261731	Chromatin interaction
ENSG00000143543	Chromatin interaction
ENSG00000169877	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12598647	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55665474	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55694990	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55976573	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55998443	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57244375	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57534078	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59896576	0.90[EUR][1000 genomes]
rs61137100	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61374523	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7184275	0.86[EUR][1000 genomes]
rs74015551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74015556	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74015558	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74015559	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74015560	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74015561	0.86[AFR][1000 genomes]
rs74015568	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74015570	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74015571	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8043997	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8046892	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8049984	0.90[AFR][1000 genomes]
rs8050193	0.86[AFR][1000 genomes]
rs8051354	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8052917	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8055446	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
4	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
5	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
6	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
7	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
8	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
9	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
10	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 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	chr16:31518000-31519600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr16:31518200-31519200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:31518200-31519200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr16:31518200-31519200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:31518200-31519200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:31518200-31519200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:31518200-31519200	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr16:31518200-31519200	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr16:31518200-31519200	Flanking Active TSS	Right Ventricle	heart
10	chr16:31518200-31519200	Flanking Active TSS	Osteobl	bone
11	chr16:31518200-31519400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:31518200-31519600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
13	chr16:31518200-31520800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr16:31518400-31519200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:31518400-31519200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr16:31518400-31519200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr16:31518400-31519200	Flanking Active TSS	Liver	Liver
18	chr16:31518400-31519200	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr16:31518400-31519200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:31518400-31519200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr16:31518400-31519200	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr16:31518400-31519200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr16:31518400-31519200	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr16:31518400-31519200	Flanking Active TSS	HMEC	breast
25	chr16:31518400-31519200	Flanking Active TSS	HSMMtube	muscle
26	chr16:31518400-31519200	Flanking Active TSS	HUVEC	blood vessel
27	chr16:31518400-31519200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr16:31518400-31520200	Active TSS	Fetal Kidney	kidney
29	chr16:31518400-31520600	Active TSS	H1 Cell Line	embryonic stem cell
30	chr16:31518400-31520600	Active TSS	A549	lung
31	chr16:31518400-31520800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr16:31518400-31520800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:31518400-31521400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:31518600-31519200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr16:31518600-31519200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr16:31518600-31519200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr16:31518600-31519200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr16:31518600-31519200	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr16:31518600-31519200	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr16:31518600-31519200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr16:31518600-31519200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr16:31518600-31519200	Flanking Active TSS	Fetal Brain Female	brain
43	chr16:31518600-31519200	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr16:31518600-31519200	Flanking Active TSS	Placenta	Placenta
45	chr16:31518600-31519200	Flanking Active TSS	Fetal Stomach	stomach
46	chr16:31518600-31519200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr16:31518600-31519200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr16:31518600-31519200	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr16:31518600-31519400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr16:31518600-31519400	Flanking Active TSS	Adipose Nuclei	Adipose

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