Variant report

Variant	rs16970331
Chromosome Location	chr16:70611562-70611563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70610837-70611584	HUVEC	blood vessel:	n/a	n/a
2	RXRA	chr16:70611083-70611657	SK-N-SH	brain:	n/a	n/a
3	BCL3	chr16:70610085-70611757	A549	lung:	n/a	n/a
4	POLR2A	chr16:70609386-70611569	GM12878	blood:	n/a	n/a
5	NFIC	chr16:70610973-70611769	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr16:70609314-70611763	U87	brain:	n/a	n/a
7	POLR2A	chr16:70609327-70611564	GM12878	blood:	n/a	n/a
8	POLR2A	chr16:70609234-70611733	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr16:70610186-70611565	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr16:70610269-70611603	ECC-1	luminal epithelium:	n/a	n/a
11	MTA3	chr16:70609736-70611571	GM12878	blood:	n/a	n/a
12	POLR2A	chr16:70609201-70611753	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr16:70610861-70611565	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:70605504-70611628	K562	blood:	n/a	n/a
15	FOS	chr16:70610911-70611562	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT5A	chr16:70610932-70611701	GM12878	blood:	n/a	n/a
17	JUND	chr16:70610199-70611695	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr16:70610216-70611590	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr16:70610217-70611709	U87	brain:	n/a	n/a
20	POLR2A	chr16:70605539-70612779	K562	blood:	n/a	n/a
21	POLR2A	chr16:70609370-70614299	A549	lung:	n/a	n/a
22	POLR2A	chr16:70610242-70611633	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr16:70609264-70611690	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr16:70609319-70611603	HL-60	blood:	n/a	n/a
25	POLR2A	chr16:70609293-70611676	SK-N-SH	brain:	n/a	n/a
26	MAZ	chr16:70610833-70611739	IMR90	lung:	n/a	n/a
27	POLR2A	chr16:70610193-70611609	ECC-1	luminal epithelium:	n/a	n/a
28	TEAD4	chr16:70611218-70611645	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr16:70609320-70611757	U87	brain:	n/a	n/a
30	BCL3	chr16:70610067-70611604	K562	blood:	n/a	n/a
31	MYC	chr16:70610321-70611598	MCF10A-Er-Src	breast:	n/a	chr16:70610459-70610468 chr16:70610454-70610473 chr16:70610558-70610567 chr16:70610459-70610466 chr16:70610458-70610469
32	EGR1	chr16:70611020-70611636	HCT-116	colon:	n/a	chr16:70611433-70611443
33	TEAD4	chr16:70611046-70611589	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr16:70609259-70611620	PANC-1	pancreas:	n/a	n/a
35	POLR2A	chr16:70611045-70611581	HepG2	liver:	n/a	n/a
36	EGR1	chr16:70611033-70611581	HCT-116	colon:	n/a	chr16:70611433-70611443
37	POLR2A	chr16:70609894-70611582	Hela-S3	cervix:	n/a	n/a
38	STAT3	chr16:70611336-70611586	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr16:70609412-70614432	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr16:70609303-70611636	HL-60	blood:	n/a	n/a
41	POLR2A	chr16:70609331-70612355	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr16:70610812-70611577	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr16:70609319-70611646	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr16:70608700-70611737	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr16:70610336-70611632	MCF10A-Er-Src	breast:	n/a	n/a
46	JUND	chr16:70610962-70611688	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr16:70609372-70611584	HepG2	liver:	n/a	n/a
48	POLR2A	chr16:70609151-70611587	GM12892	blood:	n/a	n/a
49	PBX3	chr16:70611106-70611673	SK-N-SH	brain:	n/a	chr16:70611188-70611208
50	POLR2A	chr16:70610073-70611722	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70607368..70609448-chr16:70611142..70612742,2	K562	blood:
2	chr16:70607368..70609264-chr16:70610510..70612742,2	K562	blood:
3	chr16:70601596..70604589-chr16:70610308..70612754,2	MCF-7	breast:
4	chr16:70610457..70612754-chr16:70614831..70616997,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SF3B3-1	chr16:70611221-70611571	ENSG00000260023.1

No data

Variant related genes	Relation type
IL34	TF binding region
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11865368	1.00[AMR][1000 genomes]
rs11867150	0.91[YRI][hapmap]
rs13335135	1.00[ASW][hapmap]
rs16970133	1.00[EUR][1000 genomes]
rs16970149	1.00[EUR][1000 genomes]
rs16970151	1.00[EUR][1000 genomes]
rs16970152	1.00[EUR][1000 genomes]
rs16970153	1.00[EUR][1000 genomes]
rs16970154	0.82[YRI][hapmap]
rs16970159	1.00[EUR][1000 genomes]
rs16970165	1.00[EUR][1000 genomes]
rs16970191	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs16970335	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878832	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879608	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17880242	1.00[AMR][1000 genomes]
rs17880392	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17881069	0.85[AFR][1000 genomes]
rs17882800	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17883309	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885493	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3852697	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3852698	0.81[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4999489	1.00[AMR][1000 genomes]
rs56348821	1.00[EUR][1000 genomes]
rs57150196	1.00[EUR][1000 genomes]
rs59552467	1.00[EUR][1000 genomes]
rs60011151	1.00[EUR][1000 genomes]
rs60387488	1.00[EUR][1000 genomes]
rs61284127	1.00[EUR][1000 genomes]
rs61369696	1.00[EUR][1000 genomes]
rs6499313	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499315	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499316	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499319	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195104	1.00[EUR][1000 genomes]
rs7196295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199043	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203548	1.00[EUR][1000 genomes]
rs7203761	1.00[EUR][1000 genomes]
rs74026026	1.00[EUR][1000 genomes]
rs8044110	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8044956	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050252	1.00[EUR][1000 genomes]
rs8053883	1.00[EUR][1000 genomes]
rs8058032	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064090	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70607000-70613200	Weak transcription	Stomach Mucosa	stomach
2	chr16:70607600-70615400	Weak transcription	Fetal Heart	heart
3	chr16:70607800-70612800	Weak transcription	Brain Hippocampus Middle	brain
4	chr16:70608000-70613400	Weak transcription	Right Ventricle	heart
5	chr16:70608000-70624600	Weak transcription	Pancreas	Pancrea
6	chr16:70608200-70613200	Weak transcription	HepG2	liver
7	chr16:70608400-70612600	Weak transcription	Fetal Brain Female	brain
8	chr16:70608400-70613400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:70608400-70613600	Weak transcription	Ovary	ovary
10	chr16:70608600-70613200	Weak transcription	Left Ventricle	heart
11	chr16:70608600-70613400	Weak transcription	Esophagus	oesophagus
12	chr16:70608600-70613800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:70608800-70616000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:70609000-70612000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr16:70609000-70612400	Enhancers	NHDF-Ad	bronchial
16	chr16:70609000-70613200	Weak transcription	K562	blood
17	chr16:70609000-70613600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:70609000-70613800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr16:70609000-70613800	Weak transcription	Gastric	stomach
20	chr16:70609000-70628000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:70609600-70611600	Enhancers	Adipose Nuclei	Adipose
22	chr16:70609600-70611600	Enhancers	HUVEC	blood vessel
23	chr16:70609600-70612000	Weak transcription	Primary T cells from cord blood	blood
24	chr16:70609600-70612200	Enhancers	NH-A	brain
25	chr16:70609600-70613400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr16:70609600-70613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:70609600-70613800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr16:70609600-70614000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:70609800-70611600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr16:70609800-70611600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:70609800-70611600	Enhancers	NHLF	lung
32	chr16:70609800-70612000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:70609800-70612200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:70609800-70612200	Enhancers	HSMM	muscle
35	chr16:70609800-70612400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:70609800-70612600	Enhancers	HMEC	breast
37	chr16:70609800-70613200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr16:70609800-70616200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:70609800-70623800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr16:70610000-70611600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:70610000-70611600	Enhancers	Placenta	Placenta
42	chr16:70610000-70611600	Weak transcription	Thymus	Thymus
43	chr16:70610000-70612200	Enhancers	Fetal Intestine Large	intestine
44	chr16:70610000-70623800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:70610200-70611600	Enhancers	Spleen	Spleen
46	chr16:70610200-70612000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr16:70610200-70612000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:70610200-70612200	Enhancers	Fetal Intestine Small	intestine
49	chr16:70610400-70612400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr16:70610600-70612200	Enhancers	HSMMtube	muscle

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