Variant report

Variant	rs10211375
Chromosome Location	chr2:191402680-191402681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:120)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:120 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr2:191402584-191402851	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr2:191402547-191402915	GM12878	blood:	n/a	n/a
3	SP1	chr2:191402646-191402758	HepG2	liver:	n/a	n/a
4	ZBTB33	chr2:191402608-191402786	HepG2	liver:	n/a	n/a
5	POU2F2	chr2:191402570-191402800	GM12878	blood:	n/a	n/a
6	TCF12	chr2:191402586-191402783	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr2:191402589-191402843	HepG2	liver:	n/a	n/a
8	MAX	chr2:191402485-191402765	K562	blood:	n/a	n/a
9	BATF	chr2:191402542-191402829	GM12878	blood:	n/a	n/a
10	TCF12	chr2:191402590-191402790	GM12878	blood:	n/a	n/a
11	EP300	chr2:191402594-191402863	GM12878	blood:	n/a	n/a
12	MYC	chr2:191402546-191402849	K562	blood:	n/a	n/a
13	STAT3	chr2:191402549-191402746	MCF10A-Er-Src	breast:	n/a	n/a
14	MXI1	chr2:191402546-191402892	H1-hESC	embryonic stem cell:	n/a	n/a
15	FOS	chr2:191402547-191402849	MCF10A-Er-Src	breast:	n/a	n/a
16	FOSL2	chr2:191402498-191402853	HepG2	liver:	n/a	n/a
17	CUX1	chr2:191402561-191402746	GM12878	blood:	n/a	n/a
18	GTF2F1	chr2:191402482-191402920	H1-hESC	embryonic stem cell:	n/a	n/a
19	IRF1	chr2:191402547-191402915	K562	blood:	n/a	n/a
20	FOS	chr2:191402584-191402860	MCF10A-Er-Src	breast:	n/a	n/a
21	SPI1	chr2:191402604-191402806	K562	blood:	n/a	n/a
22	EBF1	chr2:191402587-191402878	GM12878	blood:	n/a	n/a
23	CEBPB	chr2:191402482-191402850	H1-hESC	embryonic stem cell:	n/a	n/a
24	SPI1	chr2:191402594-191402786	K562	blood:	n/a	n/a
25	USF1	chr2:191402606-191402778	HepG2	liver:	n/a	n/a
26	SIN3AK20	chr2:191402586-191402794	HepG2	liver:	n/a	n/a
27	YY1	chr2:191402557-191402883	SK-N-SH_RA	brain:	n/a	n/a
28	TBL1XR1	chr2:191402594-191402747	K562	blood:	n/a	n/a
29	UBTF	chr2:191402481-191402920	K562	blood:	n/a	n/a
30	CHD1	chr2:191402481-191402915	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr2:191402482-191402849	Hela-S3	cervix:	n/a	n/a
32	SP1	chr2:191402560-191402987	GM12878	blood:	n/a	n/a
33	WRNIP1	chr2:191402547-191402920	GM12878	blood:	n/a	n/a
34	FOXP2	chr2:191402578-191402809	SK-N-MC	brain:	n/a	n/a
35	EBF1	chr2:191402579-191402927	GM12878	blood:	n/a	n/a
36	SIN3AK20	chr2:191402612-191402809	HepG2	liver:	n/a	n/a
37	EP300	chr2:191402573-191402850	K562	blood:	n/a	n/a
38	RFX5	chr2:191402547-191402747	K562	blood:	n/a	n/a
39	FOSL2	chr2:191402422-191402990	HepG2	liver:	n/a	n/a
40	SIN3A	chr2:191402649-191402849	GM12878	blood:	n/a	n/a
41	ZMIZ1	chr2:191402532-191402915	K562	blood:	n/a	n/a
42	MYC	chr2:191402527-191402920	H1-hESC	embryonic stem cell:	n/a	n/a
43	ELK1	chr2:191402546-191402919	Hela-S3	cervix:	n/a	n/a
44	ELK1	chr2:191402547-191402747	GM12878	blood:	n/a	n/a
45	BATF	chr2:191402529-191402798	GM12878	blood:	n/a	n/a
46	ZBTB33	chr2:191402448-191402964	GM12878	blood:	n/a	n/a
47	BCL11A	chr2:191402552-191402868	GM12878	blood:	n/a	n/a
48	ELF1	chr2:191402524-191402858	A549	lung:	n/a	n/a
49	YY1	chr2:191402567-191402853	SK-N-SH_RA	brain:	n/a	n/a
50	YY1	chr2:191402554-191402863	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:191401207..191403475-chr2:191412047..191414173,2	K562	blood:
2	chr2:191398233..191400106-chr2:191402182..191403858,2	MCF-7	breast:
3	chr2:191173738..191175735-chr2:191400654..191403444,2	K562	blood:
4	chr2:191402553..191405475-chr2:191414639..191416987,2	MCF-7	breast:
5	chr2:191401207..191403426-chr2:191411278..191414173,2	K562	blood:

No data

Variant related genes	Relation type
TMEM194B	TF binding region
ENSG00000233654	Chromatin interaction
ENSG00000189362	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10169169	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171376	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10173975	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179262	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185147	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10189140	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202274	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10204342	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209340	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11553601	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11695439	0.84[ASN][1000 genomes]
rs13031452	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384743	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13386210	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13388162	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13395233	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13398741	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405215	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13410179	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13412663	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13412823	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13412835	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13412879	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13417310	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418943	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13429315	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1837686	0.87[ASN][1000 genomes]
rs3811608	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4283453	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4853712	0.95[ASN][1000 genomes]
rs56715527	0.84[ASN][1000 genomes]
rs58210597	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58253207	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58433478	0.92[ASN][1000 genomes]
rs58708643	0.87[ASN][1000 genomes]
rs6717050	0.97[ASN][1000 genomes]
rs72903349	0.82[ASN][1000 genomes]
rs72903383	0.86[ASN][1000 genomes]
rs72905242	0.92[ASN][1000 genomes]
rs73054092	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556716	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560045	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564107	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7574844	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594994	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7609330	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs894072	0.86[ASN][1000 genomes]
rs9288174	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10211375	NAB1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191400600-191403000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:191400600-191404600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:191401600-191402800	ZNF genes & repeats	GM12878-XiMat	blood
4	chr2:191401800-191403000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr2:191402000-191402800	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr2:191402000-191403000	ZNF genes & repeats	Fetal Muscle Leg	muscle
7	chr2:191402000-191405600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:191402000-191405800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:191402400-191403000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr2:191402400-191403000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:191402400-191403000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
12	chr2:191402400-191403000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr2:191402400-191403000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr2:191402400-191403000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:191402400-191403000	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr2:191402400-191403000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr2:191402400-191403000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:191402400-191403000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
19	chr2:191402400-191403000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:191402400-191403000	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr2:191402400-191403000	ZNF genes & repeats	Brain Anterior Caudate	brain
22	chr2:191402400-191403000	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr2:191402400-191403000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
24	chr2:191402400-191403000	ZNF genes & repeats	Brain Substantia Nigra	brain
25	chr2:191402400-191403000	ZNF genes & repeats	Fetal Intestine Large	intestine
26	chr2:191402400-191403000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
27	chr2:191402400-191403000	ZNF genes & repeats	Ovary	ovary
28	chr2:191402400-191403200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr2:191402400-191406600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr2:191402600-191402800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:191402600-191402800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:191402600-191402800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:191402600-191402800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:191402600-191402800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:191402600-191402800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:191402600-191402800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
37	chr2:191402600-191402800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
38	chr2:191402600-191402800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr2:191402600-191402800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:191402600-191402800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
41	chr2:191402600-191402800	ZNF genes & repeats	Placenta	Placenta
42	chr2:191402600-191402800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
43	chr2:191402600-191402800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
44	chr2:191402600-191402800	Flanking Bivalent TSS/Enh	Small Intestine	intestine
45	chr2:191402600-191402800	ZNF genes & repeats	HSMMtube	muscle
46	chr2:191402600-191402800	ZNF genes & repeats	K562	blood
47	chr2:191402600-191403000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:191402600-191403000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:191402600-191403000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:191402600-191403000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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