Variant report

Variant	rs7194397
Chromosome Location	chr16:72128299-72128300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:72127171-72128405	Hela-S3	cervix:	n/a	n/a
2	GATA1	chr16:72127390-72128506	PBDE	blood:	n/a	chr16:72127614-72127624
3	POLR2A	chr16:72127250-72128400	U87	brain:	n/a	n/a
4	POLR2A	chr16:72127187-72128367	GM19193	blood:	n/a	n/a
5	SIN3A	chr16:72126770-72128640	H1-hESC	embryonic stem cell:	n/a	chr16:72127343-72127351 chr16:72127337-72127350
6	POLR2A	chr16:72126738-72128525	Hela-S3	cervix:	n/a	n/a
7	TAF1	chr16:72126780-72128439	H1-hESC	embryonic stem cell:	n/a	n/a
8	GABPA	chr16:72126579-72128509	A549	lung:	n/a	chr16:72127456-72127470
9	TAF1	chr16:72127491-72128361	H1-neurons	neurons:	n/a	n/a
10	EGR1	chr16:72128267-72128462	K562	blood:	n/a	n/a
11	POLR2A	chr16:72126993-72128337	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr16:72127199-72128431	GM12891	blood:	n/a	n/a
13	POLR2A	chr16:72127124-72128454	GM18505	blood:	n/a	n/a
14	MXI1	chr16:72126820-72128414	HepG2	liver:	n/a	n/a
15	ZMIZ1	chr16:72127317-72128409	K562	blood:	n/a	n/a
16	POLR2A	chr16:72127200-72128357	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr16:72127379-72128375	K562	blood:	n/a	n/a
18	RELA	chr16:72127200-72128392	GM19099	blood:	n/a	n/a
19	POLR2A	chr16:72126890-72128507	IMR90	lung:	n/a	n/a
20	POLR2A	chr16:72127266-72128718	GM12878	blood:	n/a	n/a
21	POLR2A	chr16:72126883-72128394	GM12892	blood:	n/a	n/a
22	PML	chr16:72126842-72128497	GM12878	blood:	n/a	n/a
23	GABPA	chr16:72127130-72128333	K562	blood:	n/a	chr16:72127456-72127470
24	POLR2A	chr16:72126793-72128416	Hela-S3	cervix:	n/a	n/a
25	GABPA	chr16:72126596-72128376	MCF-7	breast:	n/a	chr16:72127456-72127470
26	POLR2A	chr16:72126706-72128450	K562	blood:	n/a	n/a
27	POLR2A	chr16:72126810-72128394	K562	blood:	n/a	n/a
28	YY1	chr16:72127198-72128326	K562	blood:	n/a	chr16:72127579-72127601 chr16:72127892-72127906 chr16:72127834-72127844 chr16:72127978-72128000 chr16:72127990-72128000
29	MXI1	chr16:72126245-72128714	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr16:72127127-72128501	GM12878	blood:	n/a	n/a
31	MXI1	chr16:72126742-72128794	IMR90	lung:	n/a	n/a
32	WRNIP1	chr16:72127131-72128887	GM12878	blood:	n/a	n/a
33	YY1	chr16:72127122-72128373	H1-hESC	embryonic stem cell:	n/a	chr16:72127579-72127601 chr16:72127892-72127906 chr16:72127834-72127844 chr16:72127171-72127187 chr16:72127978-72128000 chr16:72127990-72128000
34	POLR2A	chr16:72127257-72128387	K562	blood:	n/a	n/a
35	MYBL2	chr16:72127122-72128422	HepG2	liver:	n/a	n/a
36	POLR2A	chr16:72126862-72128384	Raji	blood:	n/a	n/a
37	POLR2A	chr16:72127125-72128462	H1-neurons	neurons:	n/a	n/a
38	HEY1	chr16:72128138-72128364	K562	blood:	n/a	n/a
39	SP2	chr16:72127258-72128323	HepG2	liver:	n/a	n/a
40	UBTF	chr16:72127192-72128359	K562	blood:	n/a	n/a
41	POU2F2	chr16:72127115-72128392	GM12891	blood:	n/a	chr16:72127196-72127209 chr16:72127196-72127209
42	POLR2A	chr16:72126453-72128718	GM12878	blood:	n/a	n/a
43	GABPA	chr16:72126637-72128318	SK-N-SH	brain:	n/a	chr16:72127456-72127470
44	POLR2A	chr16:72127147-72128410	GM19099	blood:	n/a	n/a
45	POLR2A	chr16:72127156-72128530	H1-neurons	neurons:	n/a	n/a
46	HCFC1	chr16:72126858-72128345	K562	blood:	n/a	n/a
47	POLR2A	chr16:72127127-72128536	GM12878	blood:	n/a	n/a
48	POLR2A	chr16:72127198-72128386	GM12892	blood:	n/a	n/a
49	POLR2A	chr16:72127146-72128426	K562	blood:	n/a	n/a
50	RCOR1	chr16:72127012-72128317	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:72117553..72119364-chr16:72127046..72129363,2	MCF-7	breast:
2	chr16:72087766..72090367-chr16:72125547..72128434,2	K562	blood:
3	chr16:72099750..72107853-chr16:72126502..72131093,10	MCF-7	breast:
4	chr16:18812518..18813083-chr16:72127604..72128561,3	Hela-S3	cervix:
5	chr16:72127858..72128539-chr6:35227141..35228082,2	Hela-S3	cervix:
6	chr16:72042306..72048206-chr16:72125753..72130155,8	MCF-7	breast:
7	chr16:72127015..72130100-chr16:72137516..72139899,4	MCF-7	breast:
8	chr16:72040983..72044286-chr16:72126039..72129128,5	MCF-7	breast:
9	chr16:72042016..72045516-chr16:72126835..72130601,4	K562	blood:
10	chr16:71879510..71881419-chr16:72127750..72129828,2	MCF-7	breast:
11	chr11:62358922..62359848-chr16:72127020..72128328,4	Hela-S3	cervix:
12	chr16:71840719..71844104-chr16:72124883..72128411,3	K562	blood:

Variant related genes	Relation type
DHX38	TF binding region
TXNL4B	TF binding region
ENSG00000260342	Chromatin interaction
ENSG00000140829	Chromatin interaction
ENSG00000170540	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000102967	Chromatin interaction
ENSG00000261701	Chromatin interaction
ENSG00000257017	Chromatin interaction
ENSG00000260252	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10492813	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10492814	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1050361	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1050362	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1050363	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11862813	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12325142	0.81[EUR][1000 genomes]
rs12445586	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12708925	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12708926	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12708927	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12708928	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12924413	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12930702	0.81[ASN][1000 genomes]
rs12932845	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2072141	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2072142	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2074627	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2240243	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2241411	0.87[ASN][1000 genomes]
rs2241412	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2269918	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303285	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550035	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2550038	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2854956	0.81[ASN][1000 genomes]
rs3764311	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764312	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3764314	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812986	0.83[ASN][1000 genomes]
rs3852781	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890860	0.82[AFR][1000 genomes]
rs4788461	0.83[ASN][1000 genomes]
rs6499557	0.82[ASN][1000 genomes]
rs6499559	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6499561	0.81[AMR][1000 genomes]
rs6680	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7190995	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7191127	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7192730	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7194668	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7199261	0.80[ASN][1000 genomes]
rs7200854	0.82[ASN][1000 genomes]
rs7940	0.89[ASN][1000 genomes]
rs8043606	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8047377	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8051882	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8058609	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8059378	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8059437	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8060770	0.84[ASN][1000 genomes]
rs8182213	0.81[ASN][1000 genomes]
rs9925763	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9926156	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9926927	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9928157	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9930890	0.89[ASN][1000 genomes]
rs9932062	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9938382	0.81[ASN][1000 genomes]
rs9941087	0.81[ASN][1000 genomes]
rs9941346	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
9	esv1808086	chr16:72088669-72128767	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
10	esv3343168	chr16:72111500-72128436	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7194397	DHX38	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72125800-72128800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:72126200-72128400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:72126200-72128400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr16:72126200-72128600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:72126200-72128600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:72126200-72128800	Active TSS	Ovary	ovary
7	chr16:72126200-72128800	Active TSS	Right Atrium	heart
8	chr16:72126200-72128800	Active TSS	NHLF	lung
9	chr16:72126200-72129000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:72126200-72129000	Active TSS	Right Ventricle	heart
11	chr16:72126200-72129000	Active TSS	HSMM	muscle
12	chr16:72126200-72129400	Active TSS	Psoas Muscle	Psoas
13	chr16:72126400-72128600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:72126400-72128600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:72126400-72128600	Active TSS	Gastric	stomach
16	chr16:72126400-72128800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr16:72126400-72128800	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr16:72126400-72128800	Active TSS	Aorta	Aorta
19	chr16:72126400-72128800	Active TSS	Left Ventricle	heart
20	chr16:72126400-72128800	Active TSS	Lung	lung
21	chr16:72126400-72128800	Active TSS	NHDF-Ad	bronchial
22	chr16:72126400-72129000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr16:72126400-72129000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:72126400-72129000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:72126600-72128400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:72126600-72128400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr16:72126600-72128400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr16:72126600-72128600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr16:72126600-72128600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:72126600-72128600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr16:72126600-72128600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr16:72126600-72128600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:72126600-72128600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:72126600-72128600	Active TSS	Fetal Intestine Large	intestine
35	chr16:72126600-72128600	Active TSS	Fetal Intestine Small	intestine
36	chr16:72126600-72128600	Active TSS	HSMMtube	muscle
37	chr16:72126600-72128800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:72126600-72128800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:72126600-72128800	Active TSS	A549	lung
40	chr16:72126600-72128800	Active TSS	GM12878-XiMat	blood
41	chr16:72126600-72128800	Bivalent/Poised TSS	HepG2	liver
42	chr16:72126600-72128800	Active TSS	K562	blood
43	chr16:72126600-72129000	Active TSS	H1 Cell Line	embryonic stem cell
44	chr16:72126800-72128400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr16:72126800-72128400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr16:72126800-72128400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:72126800-72128400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:72126800-72128400	Active TSS	Muscle Satellite Cultured Cells	--
49	chr16:72126800-72128400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:72126800-72128400	Active TSS	Brain Cingulate Gyrus	brain

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