Variant report

Variant	rs10422076
Chromosome Location	chr19:44529343-44529344
allele	A/G
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	MYC	chr19:44529289-44529368	HepG2	liver:	n/a	n/a
2	CREB1	chr19:44529218-44529661	A549	lung:	n/a	n/a
3	POLR2A	chr19:44529325-44529721	HL-60	blood:	n/a	n/a
4	POLR2A	chr19:44529174-44529759	U87	brain:	n/a	n/a
5	GABPA	chr19:44529288-44529687	H1-hESC	embryonic stem cell:	n/a	chr19:44529643-44529652
6	ELK1	chr19:44529283-44529658	K562	blood:	n/a	chr19:44529471-44529480 chr19:44529471-44529480
7	POLR2A	chr19:44529158-44529749	GM12891	blood:	n/a	n/a
8	POLR2A	chr19:44529159-44529812	GM12892	blood:	n/a	n/a
9	CREB1	chr19:44529199-44529770	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBP	chr19:44529264-44529538	HepG2	liver:	n/a	n/a
11	POLR2A	chr19:44528964-44529685	H1-hESC	embryonic stem cell:	n/a	n/a
12	NFIC	chr19:44529253-44529643	HepG2	liver:	n/a	n/a
13	SIX5	chr19:44529160-44529587	GM12878	blood:	n/a	n/a
14	TAF1	chr19:44529067-44529821	H1-hESC	embryonic stem cell:	n/a	n/a
15	ELK1	chr19:44529288-44529638	Hela-S3	cervix:	n/a	chr19:44529471-44529480 chr19:44529471-44529480
16	POLR2A	chr19:44529011-44529854	HUVEC	blood vessel:	n/a	n/a
17	SIX5	chr19:44528955-44529883	A549	lung:	n/a	n/a
18	GABPA	chr19:44529272-44529742	HepG2	liver:	n/a	chr19:44529643-44529652
19	POLR2A	chr19:44529209-44529770	K562	blood:	n/a	n/a
20	MXI1	chr19:44529216-44529702	GM12878	blood:	n/a	n/a
21	YY1	chr19:44529323-44529568	K562	blood:	n/a	n/a
22	CREB1	chr19:44529158-44529984	GM12878	blood:	n/a	n/a
23	ZMIZ1	chr19:44529113-44529633	K562	blood:	n/a	n/a
24	CREB1	chr19:44529210-44529847	A549	lung:	n/a	n/a
25	SIX5	chr19:44529194-44529666	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:44529090-44529831	PFSK-1	brain:	n/a	n/a
27	ELF1	chr19:44529196-44529814	GM12878	blood:	n/a	chr19:44529470-44529483
28	CREB1	chr19:44529305-44529729	H1-hESC	embryonic stem cell:	n/a	n/a
29	ETS1	chr19:44529238-44529747	GM12878	blood:	n/a	chr19:44529471-44529480 chr19:44529469-44529480 chr19:44529468-44529484 chr19:44529471-44529480 chr19:44529471-44529480 chr19:44529469-44529479 chr19:44529470-44529483 chr19:44529471-44529480 chr19:44529471-44529480 chr19:44529471-44529480 chr19:44529435-44529448 chr19:44529641-44529652 chr19:44529471-44529480 chr19:44529470-44529483
30	POLR2A	chr19:44529229-44529801	GM12892	blood:	n/a	n/a
31	TBL1XR1	chr19:44529264-44529489	K562	blood:	n/a	n/a
32	POLR2A	chr19:44529157-44529724	HCT-116	colon:	n/a	n/a
33	GABPA	chr19:44528881-44529926	A549	lung:	n/a	chr19:44529643-44529652
34	POLR2A	chr19:44529223-44529673	HepG2	liver:	n/a	n/a
35	CREB1	chr19:44529060-44529898	K562	blood:	n/a	n/a
36	TBP	chr19:44529215-44529700	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr19:44529103-44529741	SK-N-MC	brain:	n/a	n/a
38	ATF3	chr19:44529251-44529565	K562	blood:	n/a	n/a
39	ELF1	chr19:44529054-44529809	MCF-7	breast:	n/a	chr19:44529470-44529483
40	ZNF263	chr19:44529151-44530422	HEK293-T-REx	kidney:	n/a	chr19:44529766-44529775
41	RCOR1	chr19:44529244-44529529	K562	blood:	n/a	n/a
42	SIX5	chr19:44529181-44529631	A549	lung:	n/a	n/a
43	HCFC1	chr19:44529218-44529808	K562	blood:	n/a	n/a
44	ELF1	chr19:44529254-44529621	HepG2	liver:	n/a	chr19:44529470-44529483
45	CBX3	chr19:44529210-44529698	K562	blood:	n/a	n/a
46	YY1	chr19:44529322-44529588	SK-N-SH_RA	brain:	n/a	n/a
47	TAF1	chr19:44529207-44529543	H1-hESC	embryonic stem cell:	n/a	n/a
48	BRCA1	chr19:44529251-44529619	Hela-S3	cervix:	n/a	n/a
49	GTF2F1	chr19:44529231-44529707	Hela-S3	cervix:	n/a	n/a
50	TAF1	chr19:44529174-44529884	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44505664..44508645-chr19:44527908..44530282,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF45-3	chr19:44529267-44529414	ENSG00000267144.1

Variant related genes	Relation type
ENSG00000267022	TF binding region
ZNF222	TF binding region
ENSG00000266921	Chromatin interaction
ENSG00000159882	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10404784	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10415001	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423020	0.87[AMR][1000 genomes]
rs13345807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4622623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9653110	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44528800-44529400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr19:44528800-44529400	Flanking Active TSS	Liver	Liver
3	chr19:44528800-44529400	Flanking Active TSS	Dnd41	blood
4	chr19:44528800-44529800	Active TSS	Brain Hippocampus Middle	brain
5	chr19:44528800-44530000	Active TSS	Brain Cingulate Gyrus	brain
6	chr19:44528800-44530000	Active TSS	Brain Substantia Nigra	brain
7	chr19:44528800-44530200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:44528800-44530200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:44528800-44530200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr19:44528800-44530200	Active TSS	Placenta Amnion	Placenta Amnion
11	chr19:44528800-44530400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:44528800-44530400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr19:44528800-44530400	Active TSS	Rectal Smooth Muscle	rectum
14	chr19:44528800-44530400	Active TSS	Stomach Smooth Muscle	stomach
15	chr19:44528800-44530600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:44528800-44530600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr19:44528800-44530600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr19:44528800-44530600	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr19:44528800-44530600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr19:44528800-44530600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:44528800-44530600	Active TSS	Brain Angular Gyrus	brain
22	chr19:44528800-44530600	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr19:44529000-44529400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr19:44529000-44529400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr19:44529000-44529400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:44529000-44529400	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr19:44529000-44529400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr19:44529000-44529400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr19:44529000-44529400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr19:44529000-44529400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr19:44529000-44529400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:44529000-44529400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr19:44529000-44529400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:44529000-44529400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:44529000-44529400	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr19:44529000-44529400	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr19:44529000-44529400	Flanking Active TSS	Fetal Brain Male	brain
38	chr19:44529000-44529400	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr19:44529000-44529400	Flanking Active TSS	Fetal Thymus	thymus
40	chr19:44529000-44529400	Active TSS	Right Atrium	heart
41	chr19:44529000-44529400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr19:44529000-44529400	Flanking Active TSS	GM12878-XiMat	blood
43	chr19:44529000-44529400	Flanking Active TSS	HMEC	breast
44	chr19:44529000-44529400	Flanking Active TSS	K562	blood
45	chr19:44529000-44529400	Flanking Active TSS	NHEK	skin
46	chr19:44529000-44529600	Active TSS	Primary T cells fromperipheralblood	blood
47	chr19:44529000-44529800	Active TSS	Primary hematopoietic stem cells	blood
48	chr19:44529000-44529800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:44529000-44529800	Active TSS	Esophagus	oesophagus
50	chr19:44529000-44529800	Active TSS	Fetal Muscle Trunk	muscle

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