Variant report

Variant	rs72611187
Chromosome Location	chr3:195976845-195976846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:195976621-195977663	GM12878	blood:	n/a	n/a
2	REST	chr3:195976822-195978169	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr3:195976567-195978337	GM12878	blood:	n/a	n/a
4	EP300	chr3:195976557-195976848	GM12878	blood:	n/a	n/a
5	USF1	chr3:195976622-195976849	HepG2	liver:	n/a	n/a
6	GABPA	chr3:195976534-195976846	Hela-S3	cervix:	n/a	n/a
7	ZBTB33	chr3:195976557-195978304	GM12878	blood:	n/a	n/a
8	FOSL2	chr3:195976600-195977049	HepG2	liver:	n/a	n/a
9	PAX5	chr3:195976599-195977358	GM12878	blood:	n/a	n/a
10	SRF	chr3:195976599-195977556	GM12878	blood:	n/a	n/a
11	EBF1	chr3:195976616-195976902	GM12878	blood:	n/a	n/a
12	TCF12	chr3:195976676-195976869	GM12878	blood:	n/a	n/a
13	SP1	chr3:195976744-195977121	GM12878	blood:	n/a	n/a
14	PAX5	chr3:195976536-195978346	GM12878	blood:	n/a	n/a
15	EP300	chr3:195976627-195976898	GM12878	blood:	n/a	n/a
16	POLR2A	chr3:195976564-195976881	Hela-S3	cervix:	n/a	n/a
17	BATF	chr3:195976826-195977663	GM12878	blood:	n/a	n/a
18	POU2F2	chr3:195976490-195978299	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:195976631-195977642	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:195976340..195978485-chr3:196049925..196051821,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228028	TF binding region
PCYT1A	TF binding region
ENSG00000145107	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11185519	0.82[ASN][1000 genomes]
rs12632779	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12633454	0.92[ASN][1000 genomes]
rs12633827	0.88[ASN][1000 genomes]
rs12634350	0.87[ASN][1000 genomes]
rs12634587	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12635925	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357290	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3772107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772108	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4396926	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56701784	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56875789	0.81[ASN][1000 genomes]
rs57987393	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58297632	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58568267	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58845625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59289255	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59708858	0.87[ASN][1000 genomes]
rs60167422	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61254593	0.91[ASN][1000 genomes]
rs61588443	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66935510	0.92[ASN][1000 genomes]
rs67199839	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72611188	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72611189	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72611190	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73212156	0.85[ASN][1000 genomes]
rs7617236	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7635355	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs939885	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
6	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
9	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
10	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
11	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
12	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
13	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
14	nsv878178	chr3:195929268-195998451	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv878179	chr3:195929268-196019680	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
17	nsv878180	chr3:195946535-196066569	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
18	nsv878181	chr3:195946535-196072442	Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
19	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
20	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
21	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
22	esv3356671	chr3:195975455-195979753	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	esv3330620	chr3:195976055-195978853	Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72611187	TCTEX1D2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195959600-195978200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:195962400-195977000	Strong transcription	Fetal Stomach	stomach
3	chr3:195962400-195979400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:195965200-195994200	Weak transcription	A549	lung
5	chr3:195965800-196012400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:195967200-195988600	Strong transcription	Fetal Intestine Small	intestine
7	chr3:195968800-195993400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:195969200-195978200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:195969600-195982400	Weak transcription	Fetal Heart	heart
10	chr3:195969600-196012400	Weak transcription	Fetal Brain Male	brain
11	chr3:195971200-195979600	Strong transcription	Fetal Muscle Leg	muscle
12	chr3:195971600-195978400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr3:195972200-195978600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr3:195972200-195979000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:195972200-195979200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:195972400-195977200	Strong transcription	Fetal Intestine Large	intestine
17	chr3:195972400-195977800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:195973400-195997200	Weak transcription	Small Intestine	intestine
19	chr3:195974400-195988800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:195974400-195999800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:195974600-195981600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:195974600-195981800	Weak transcription	Brain Germinal Matrix	brain
23	chr3:195974600-195981800	Weak transcription	Psoas Muscle	Psoas
24	chr3:195974600-195981800	Weak transcription	NHDF-Ad	bronchial
25	chr3:195974600-195982400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:195974600-195983600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr3:195974600-195987800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr3:195974600-195999800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:195974800-195977600	Weak transcription	Fetal Lung	lung
30	chr3:195974800-195999600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:195974800-195999600	Weak transcription	Pancreas	Pancrea
32	chr3:195974800-196005000	Weak transcription	Stomach Mucosa	stomach
33	chr3:195975000-195977600	Weak transcription	Brain Angular Gyrus	brain
34	chr3:195975000-195978200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:195975000-195980200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr3:195975000-195981000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:195975000-195981400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr3:195975000-195981400	Weak transcription	Fetal Thymus	thymus
39	chr3:195975000-195981600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr3:195975000-195981600	Weak transcription	Brain Hippocampus Middle	brain
41	chr3:195975000-195981800	Weak transcription	HepG2	liver
42	chr3:195975000-195982200	Weak transcription	Hela-S3	cervix
43	chr3:195975000-195982400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr3:195975000-195983400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:195975000-195983600	Weak transcription	Colon Smooth Muscle	Colon
46	chr3:195975000-195984200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:195975000-195984400	Weak transcription	Fetal Brain Female	brain
48	chr3:195975000-195988800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:195975000-195988800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:195975000-195988800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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