Variant report

Variant	rs59639975
Chromosome Location	chr16:70607918-70607919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr16:70607186-70608092	HUVEC	blood vessel:	n/a	n/a
2	RAD21	chr16:70607181-70608060	IMR90	lung:	n/a	n/a
3	POLR2A	chr16:70605969-70608018	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:70607186-70608739	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:70607767-70608064	ProgFib	skin:	n/a	n/a
6	NFATC1	chr16:70607437-70607963	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:70607554-70608047	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr16:70607239-70608094	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr16:70607300-70608032	GM12892	blood:	n/a	n/a
10	GATA3	chr16:70607128-70608058	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr16:70605504-70611628	K562	blood:	n/a	n/a
12	POLR2A	chr16:70607144-70608150	HUVEC	blood vessel:	n/a	n/a
13	GATA3	chr16:70607160-70608074	SK-N-SH	brain:	n/a	n/a
14	TCF12	chr16:70607257-70608075	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr16:70607572-70608064	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr16:70607666-70608060	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr16:70605539-70612779	K562	blood:	n/a	n/a
18	POLR2A	chr16:70607081-70608223	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr16:70607841-70608016	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr16:70607532-70608050	GM12878	blood:	n/a	n/a
21	POLR2A	chr16:70607653-70607999	MCF-7	breast:	n/a	n/a
22	POLR2A	chr16:70607894-70607925	MCF10A-Er-Src	breast:	n/a	n/a
23	MAFK	chr16:70607404-70607972	IMR90	lung:	n/a	n/a
24	POLR2A	chr16:70606581-70609175	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr16:70607540-70608079	HL-60	blood:	n/a	n/a
26	POLR2A	chr16:70607848-70608016	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:70607580-70608038	GM12891	blood:	n/a	n/a
28	POLR2A	chr16:70607113-70609065	K562	blood:	n/a	n/a
29	POLR2A	chr16:70606634-70609056	MCF10A-Er-Src	breast:	n/a	n/a
30	RCOR1	chr16:70607146-70609081	IMR90	lung:	n/a	n/a
31	POLR2A	chr16:70607308-70607964	U87	brain:	n/a	n/a
32	POLR2A	chr16:70605962-70608025	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr16:70606395-70608623	K562	blood:	n/a	n/a
34	POLR2A	chr16:70607432-70608047	GM12892	blood:	n/a	n/a
35	POLR2A	chr16:70605726-70607983	K562	blood:	n/a	n/a
36	GATA2	chr16:70606058-70608037	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr16:70605676-70608076	K562	blood:	n/a	n/a
38	NFIC	chr16:70607255-70608085	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr16:70606554-70608349	U87	brain:	n/a	n/a
40	POLR2A	chr16:70607167-70607975	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr16:70606088-70609006	HepG2	liver:	n/a	n/a
42	POLR2A	chr16:70607317-70608047	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr16:70607838-70608002	GM12878	blood:	n/a	n/a
44	POLR2A	chr16:70607094-70608044	HepG2	liver:	n/a	n/a
45	POLR2A	chr16:70606313-70607993	HepG2	liver:	n/a	n/a
46	POLR2A	chr16:70607290-70609051	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr16:70605830-70608006	GM12891	blood:	n/a	n/a
48	POLR2A	chr16:70607540-70608052	K562	blood:	n/a	n/a
49	POLR2A	chr16:70606538-70608180	U87	brain:	n/a	n/a
50	POLR2A	chr16:70607185-70607979	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70607368..70609448-chr16:70611142..70612742,2	K562	blood:
2	chr16:70601929..70604182-chr16:70607134..70609242,3	MCF-7	breast:
3	chr16:70607368..70609264-chr16:70610510..70612742,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260023	TF binding region
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16970320	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2124833	0.88[ASN][1000 genomes]
rs3886749	0.89[ASN][1000 genomes]
rs4082236	0.89[ASN][1000 genomes]
rs57136896	0.81[ASN][1000 genomes]
rs60775369	0.80[ASN][1000 genomes]
rs61191728	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6499325	0.81[ASN][1000 genomes]
rs7192031	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7196201	0.89[ASN][1000 genomes]
rs7197333	0.89[ASN][1000 genomes]
rs7199331	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs74026082	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74026083	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74026085	0.89[ASN][1000 genomes]
rs8049475	0.88[ASN][1000 genomes]
rs8049598	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8061705	0.81[ASN][1000 genomes]
rs8062231	0.83[ASN][1000 genomes]
rs8063029	0.86[ASN][1000 genomes]
rs9924487	0.83[ASN][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70560600-70609600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr16:70560800-70608800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr16:70561000-70608800	Strong transcription	Fetal Thymus	thymus
4	chr16:70561000-70609000	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr16:70561000-70609400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr16:70561000-70610000	Strong transcription	Thymus	Thymus
7	chr16:70561200-70609400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:70561200-70609600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr16:70561400-70609000	Strong transcription	Primary B cells from cord blood	blood
10	chr16:70561400-70610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:70561600-70609000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr16:70561600-70609200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr16:70561600-70609600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr16:70561600-70609800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr16:70562200-70609600	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr16:70562800-70608800	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr16:70562800-70609000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:70563200-70609000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr16:70563200-70609600	Strong transcription	Primary T cells from cord blood	blood
20	chr16:70563200-70609800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:70563200-70610000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr16:70563400-70608400	Strong transcription	Fetal Brain Female	brain
23	chr16:70563400-70609000	Strong transcription	Brain Anterior Caudate	brain
24	chr16:70563400-70609800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:70563400-70610000	Strong transcription	A549	lung
26	chr16:70563600-70608200	Strong transcription	HepG2	liver
27	chr16:70563600-70609600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:70563800-70608600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr16:70563800-70610000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:70564600-70608800	Strong transcription	Hela-S3	cervix
31	chr16:70566800-70608000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr16:70569400-70609000	Strong transcription	K562	blood
33	chr16:70570000-70609600	Strong transcription	Dnd41	blood
34	chr16:70570400-70608600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr16:70571000-70608200	Strong transcription	GM12878-XiMat	blood
36	chr16:70574600-70609800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr16:70578000-70608400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr16:70581200-70609600	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr16:70581600-70611400	Strong transcription	Brain Germinal Matrix	brain
40	chr16:70581800-70608000	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr16:70582400-70609000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr16:70582600-70608200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:70587600-70609000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr16:70588000-70609800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr16:70588200-70608000	Strong transcription	Pancreas	Pancrea
46	chr16:70594000-70609000	Strong transcription	Gastric	stomach
47	chr16:70596800-70608600	Strong transcription	Pancreatic Islets	Pancreatic Islet
48	chr16:70600400-70608600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr16:70600600-70609000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:70600600-70609000	Strong transcription	Primary hematopoietic stem cells	blood

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