Variant report

Variant	rs10422737
Chromosome Location	chr19:41251638-41251639
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	CEBPB	chr19:41251286-41251639	A549	lung:	n/a	chr19:41251459-41251470
2	CEBPB	chr19:41251250-41251688	ECC-1	luminal epithelium:	n/a	chr19:41251459-41251470
3	CEBPB	chr19:41251272-41251655	IMR90	lung:	n/a	chr19:41251459-41251470
4	CEBPB	chr19:41251214-41251671	A549	lung:	n/a	chr19:41251459-41251470
5	CEBPB	chr19:41251309-41251644	HepG2	liver:	n/a	chr19:41251459-41251470
6	CEBPB	chr19:41251255-41251714	MCF-7	breast:	n/a	chr19:41251459-41251470
7	CEBPB	chr19:41251147-41251742	A549	lung:	n/a	chr19:41251459-41251470
8	POLR2A	chr19:41251612-41251707	GM12878	blood:	n/a	n/a
9	CEBPB	chr19:41251279-41251690	ECC-1	luminal epithelium:	n/a	chr19:41251459-41251470
10	CEBPB	chr19:41251220-41251688	MCF-7	breast:	n/a	chr19:41251459-41251470
11	CEBPB	chr19:41251275-41251648	HepG2	liver:	n/a	chr19:41251459-41251470
12	CEBPB	chr19:41251273-41251645	Hela-S3	cervix:	n/a	chr19:41251459-41251470
13	BCL3	chr19:41250953-41251715	A549	lung:	n/a	n/a
14	TEAD4	chr19:41251377-41251684	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41244091..41247840-chr19:41248983..41251927,5	K562	blood:
2	chr19:41221325..41223317-chr19:41251356..41253092,2	K562	blood:
3	chr19:41243259..41245558-chr19:41249121..41252109,2	MCF-7	breast:
4	chr19:41241454..41243061-chr19:41249633..41252530,2	MCF-7	breast:
5	chr19:41249699..41252610-chr19:41306249..41307925,2	K562	blood:
6	chr19:41196421..41198353-chr19:41250017..41252593,2	MCF-7	breast:
7	chr19:41246355..41251647-chr19:41252986..41257062,8	MCF-7	breast:
8	chr19:41224831..41226803-chr19:41249457..41251875,2	K562	blood:
9	chr19:41187012..41189699-chr19:41251561..41253101,2	K562	blood:
10	chr19:41225541..41227070-chr19:41249613..41252351,2	MCF-7	breast:
11	chr19:41248854..41252993-chr19:41253162..41257094,7	MCF-7	breast:
12	chr19:41221097..41222684-chr19:41249290..41252437,3	MCF-7	breast:
13	chr19:41244887..41248770-chr19:41248882..41252217,6	K562	blood:
14	chr19:41249292..41252610-chr19:41304963..41307925,4	K562	blood:

Variant related genes	Relation type
SNRPA	TF binding region
C19orf54	TF binding region
ENSG00000086544	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000105245	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000123815	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10402565	1.00[AMR][1000 genomes]
rs10408452	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10408716	1.00[AMR][1000 genomes]
rs10415973	1.00[AMR][1000 genomes]
rs10417139	1.00[AMR][1000 genomes]
rs12104289	1.00[AMR][1000 genomes]
rs13347002	1.00[AMR][1000 genomes]
rs28368968	1.00[AMR][1000 genomes]
rs28609092	1.00[AMR][1000 genomes]
rs28636772	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	139 gene(s)	inside rSNPs	diseases
2	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1793665	chr19:41249508-41258355	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
4	esv1803061	chr19:41249508-41258355	Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41227000-41254600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr19:41227200-41255200	Weak transcription	Fetal Heart	heart
3	chr19:41237000-41255400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:41237600-41255200	Weak transcription	Fetal Brain Male	brain
5	chr19:41240200-41255600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:41242000-41253800	Weak transcription	GM12878-XiMat	blood
7	chr19:41242200-41255600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr19:41243400-41254400	Weak transcription	Psoas Muscle	Psoas
9	chr19:41243600-41255600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:41243800-41255400	Weak transcription	HSMM	muscle
11	chr19:41245000-41254600	Weak transcription	Stomach Mucosa	stomach
12	chr19:41245000-41255400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:41245200-41254400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:41245600-41255600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr19:41245800-41255400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr19:41246000-41255600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr19:41246200-41254400	Weak transcription	Brain Substantia Nigra	brain
18	chr19:41246200-41255400	Weak transcription	Brain Angular Gyrus	brain
19	chr19:41246200-41255400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:41246200-41255400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:41246200-41255600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr19:41246200-41255600	Weak transcription	Small Intestine	intestine
23	chr19:41246200-41256000	Weak transcription	Aorta	Aorta
24	chr19:41246400-41254600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr19:41246400-41255000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:41246400-41255800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:41246600-41254200	Weak transcription	Fetal Thymus	thymus
28	chr19:41246600-41254400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr19:41246600-41254400	Weak transcription	Left Ventricle	heart
30	chr19:41246600-41254400	Weak transcription	HMEC	breast
31	chr19:41246800-41254000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:41246800-41254400	Weak transcription	NHEK	skin
33	chr19:41246800-41254600	Weak transcription	Colon Smooth Muscle	Colon
34	chr19:41246800-41255000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:41246800-41255200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr19:41246800-41255200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:41246800-41255200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:41246800-41255600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:41247000-41255400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:41247200-41254400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:41247200-41254600	Weak transcription	Right Atrium	heart
42	chr19:41247200-41255800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:41247600-41254000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:41247600-41254400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:41247800-41255200	Weak transcription	NHDF-Ad	bronchial
46	chr19:41248000-41254000	Weak transcription	Primary B cells from cord blood	blood
47	chr19:41248400-41254200	Weak transcription	Liver	Liver
48	chr19:41248400-41254400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr19:41248400-41255400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:41248400-41255600	Weak transcription	Primary T cells from cord blood	blood

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