Variant report

Variant	rs7197840
Chromosome Location	chr16:70608266-70608267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70608079-70609097	GM12892	blood:	n/a	n/a
2	POLR2A	chr16:70608092-70609126	K562	blood:	n/a	n/a
3	POLR2A	chr16:70607186-70608739	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:70605504-70611628	K562	blood:	n/a	n/a
5	POLR2A	chr16:70608081-70608278	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr16:70608219-70609204	HL-60	blood:	n/a	n/a
7	POLR2A	chr16:70605539-70612779	K562	blood:	n/a	n/a
8	POLR2A	chr16:70608206-70608317	MCF-7	breast:	n/a	n/a
9	POLR2A	chr16:70608104-70609092	HL-60	blood:	n/a	n/a
10	POLR2A	chr16:70606581-70609175	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr16:70607113-70609065	K562	blood:	n/a	n/a
12	POLR2A	chr16:70606634-70609056	MCF10A-Er-Src	breast:	n/a	n/a
13	RCOR1	chr16:70607146-70609081	IMR90	lung:	n/a	n/a
14	POLR2A	chr16:70608250-70608304	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr16:70606395-70608623	K562	blood:	n/a	n/a
16	POLR2A	chr16:70608035-70609120	HepG2	liver:	n/a	n/a
17	POLR2A	chr16:70606554-70608349	U87	brain:	n/a	n/a
18	POLR2A	chr16:70606088-70609006	HepG2	liver:	n/a	n/a
19	HEY1	chr16:70608265-70608567	K562	blood:	n/a	n/a
20	POLR2A	chr16:70607290-70609051	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr16:70608256-70608345	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr16:70603398-70612236	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:70605757-70608578	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr16:70608172-70608745	K562	blood:	n/a	n/a
25	TEAD4	chr16:70608263-70608727	K562	blood:	n/a	n/a
26	POLR2A	chr16:70608207-70608727	HepG2	liver:	n/a	n/a
27	POLR2A	chr16:70608090-70609065	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: 62 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10852465	0.86[EUR][1000 genomes]
rs11075767	0.97[EUR][1000 genomes]
rs11075768	0.97[EUR][1000 genomes]
rs11075769	0.90[EUR][1000 genomes]
rs11075770	0.97[EUR][1000 genomes]
rs11075772	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11640374	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11641683	0.85[EUR][1000 genomes]
rs11643373	0.91[EUR][1000 genomes]
rs11643823	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11645092	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11645214	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11645287	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11645437	0.97[EUR][1000 genomes]
rs11645585	0.83[EUR][1000 genomes]
rs11648402	0.97[EUR][1000 genomes]
rs11649624	0.88[EUR][1000 genomes]
rs11866400	0.95[EUR][1000 genomes]
rs12597401	0.97[EUR][1000 genomes]
rs12909	0.95[EUR][1000 genomes]
rs12925729	0.95[EUR][1000 genomes]
rs12931402	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12933634	0.82[EUR][1000 genomes]
rs2168606	0.94[EUR][1000 genomes]
rs2288491	0.93[EUR][1000 genomes]
rs2303793	0.84[EUR][1000 genomes]
rs33910368	0.96[EUR][1000 genomes]
rs34567847	0.97[EUR][1000 genomes]
rs34890962	0.91[EUR][1000 genomes]
rs3762171	0.90[EUR][1000 genomes]
rs4284632	0.97[EUR][1000 genomes]
rs4324119	0.94[EUR][1000 genomes]
rs4436771	0.97[EUR][1000 genomes]
rs4513092	0.97[EUR][1000 genomes]
rs4592653	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58963621	0.93[EUR][1000 genomes]
rs6499320	0.96[EUR][1000 genomes]
rs6499321	0.96[EUR][1000 genomes]
rs71401814	0.94[EUR][1000 genomes]
rs7195030	0.90[EUR][1000 genomes]
rs7197262	0.97[EUR][1000 genomes]
rs7198317	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7199859	0.82[EUR][1000 genomes]
rs7200430	0.81[EUR][1000 genomes]
rs7201750	0.97[EUR][1000 genomes]
rs7204583	0.91[EUR][1000 genomes]
rs722579	0.85[EUR][1000 genomes]
rs8045651	0.83[EUR][1000 genomes]
rs8046881	0.93[EUR][1000 genomes]
rs8049277	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8049641	0.91[EUR][1000 genomes]
rs8049786	0.90[EUR][1000 genomes]
rs8051506	0.94[EUR][1000 genomes]
rs8052031	0.87[EUR][1000 genomes]
rs8052125	0.83[EUR][1000 genomes]
rs8057610	0.90[EUR][1000 genomes]
rs8062178	0.92[EUR][1000 genomes]
rs8063990	0.84[EUR][1000 genomes]
rs8064013	0.85[EUR][1000 genomes]
rs9635522	0.97[EUR][1000 genomes]
rs9929904	0.81[EUR][1000 genomes]
rs9936225	0.82[EUR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7197840	RP11-296I10.6	cis	Thyroid	GTEx
rs7197840	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs7197840	RP11-296I10.6	cis	Artery Tibial	GTEx
rs7197840	COG4	cis	Whole Blood	GTEx

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	chr16:70563600-70609600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:70563800-70608600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr16:70563800-70610000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:70564600-70608800	Strong transcription	Hela-S3	cervix
30	chr16:70569400-70609000	Strong transcription	K562	blood
31	chr16:70570000-70609600	Strong transcription	Dnd41	blood
32	chr16:70570400-70608600	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr16:70574600-70609800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr16:70578000-70608400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr16:70581200-70609600	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr16:70581600-70611400	Strong transcription	Brain Germinal Matrix	brain
37	chr16:70582400-70609000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr16:70587600-70609000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr16:70588000-70609800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr16:70594000-70609000	Strong transcription	Gastric	stomach
41	chr16:70596800-70608600	Strong transcription	Pancreatic Islets	Pancreatic Islet
42	chr16:70600400-70608600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr16:70600600-70609000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:70600600-70609000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr16:70603800-70611000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr16:70604400-70611000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:70604600-70609600	Genic enhancers	NH-A	brain
48	chr16:70604600-70609800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:70604600-70609800	Genic enhancers	HSMM	muscle
50	chr16:70604800-70609800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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