Variant report

Variant	rs17655574
Chromosome Location	chr19:44101645-44101646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:44099810-44101778	GM12892	blood:	n/a	n/a
2	POLR2A	chr19:44100034-44102123	K562	blood:	n/a	n/a
3	POLR2A	chr19:44099844-44102464	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr19:44099986-44101760	PFSK-1	brain:	n/a	n/a
5	JUN	chr19:44099777-44101952	K562	blood:	n/a	chr19:44100820-44100829 chr19:44100285-44100294 chr19:44100284-44100297
6	ATF1	chr19:44101492-44101883	K562	blood:	n/a	n/a
7	MTA3	chr19:44098813-44101723	GM12878	blood:	n/a	n/a
8	WRNIP1	chr19:44100031-44101740	GM12878	blood:	n/a	n/a
9	ELF1	chr19:44101268-44101680	K562	blood:	n/a	chr19:44101481-44101494
10	POLR2A	chr19:44098799-44101671	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:44101269-44102035	H1-neurons	neurons:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44077678..44083171-chr19:44093489..44103015,14	K562	blood:
2	chr19:44077687..44082496-chr19:44098234..44103069,7	MCF-7	breast:
3	chr19:44098671..44105555-chr19:44121892..44125342,15	MCF-7	breast:
4	chr19:44098885..44105672-chr19:44139703..44145307,6	MCF-7	breast:
5	chr19:44098736..44101941-chr19:44122253..44126181,8	MCF-7	breast:
6	chr19:44097777..44104240-chr19:44121602..44130880,30	K562	blood:
7	chr19:44098789..44101903-chr19:44171427..44174318,4	K562	blood:
8	chr19:44098824..44101950-chr19:44142073..44145770,3	K562	blood:
9	chr19:44078455..44080853-chr19:44098810..44102178,4	MCF-7	breast:
10	chr19:44100992..44104093-chr19:44119148..44120939,3	K562	blood:
11	chr19:44100944..44102513-chr19:44136939..44138687,2	MCF-7	breast:
12	chr19:44097500..44104541-chr19:44116930..44130620,31	K562	blood:
13	chr19:44036790..44040633-chr19:44098075..44102401,5	K562	blood:
14	chr19:44036790..44039764-chr19:44099068..44102401,4	K562	blood:

No data

Variant related genes	Relation type
IRGQ	TF binding region
ENSG00000268361	TF binding region
ENSG00000234465	Chromatin interaction
ENSG00000176472	Chromatin interaction
ENSG00000105767	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000011422	Chromatin interaction
ENSG00000073050	Chromatin interaction
ENSG00000269583	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11083712	0.83[EUR][1000 genomes]
rs11671645	0.86[EUR][1000 genomes]
rs12461175	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1402325	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1402326	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1879387	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2003098	0.86[EUR][1000 genomes]
rs2079646	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2302421	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3746002	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs3746003	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3815422	0.86[EUR][1000 genomes]
rs4803643	0.85[EUR][1000 genomes]
rs4803644	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73038867	0.82[EUR][1000 genomes]
rs767540	1.00[CEU][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs880108	1.00[CEU][hapmap];0.85[EUR][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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44098800-44102200	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr19:44098800-44102200	Active TSS	HSMMtube	muscle
3	chr19:44098800-44102400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:44100600-44101800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:44100600-44101800	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr19:44100600-44102200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr19:44100600-44102200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr19:44100600-44102400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr19:44100600-44102400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:44100600-44102400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:44100800-44101800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr19:44100800-44101800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr19:44100800-44101800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr19:44100800-44101800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr19:44100800-44101800	Flanking Active TSS	Liver	Liver
16	chr19:44100800-44101800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr19:44100800-44102000	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr19:44100800-44102000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr19:44100800-44102000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr19:44100800-44102000	Flanking Active TSS	Fetal Brain Female	brain
21	chr19:44100800-44102000	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr19:44100800-44102200	Flanking Active TSS	NH-A	brain
23	chr19:44100800-44102400	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr19:44100800-44102400	Flanking Active TSS	HUVEC	blood vessel
25	chr19:44100800-44102600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr19:44101000-44101800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:44101000-44101800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:44101000-44101800	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr19:44101000-44101800	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr19:44101000-44101800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr19:44101000-44101800	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr19:44101000-44101800	Flanking Active TSS	Fetal Heart	heart
33	chr19:44101000-44101800	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr19:44101000-44101800	Flanking Active TSS	Fetal Kidney	kidney
35	chr19:44101000-44101800	Flanking Active TSS	Fetal Lung	lung
36	chr19:44101000-44101800	Flanking Active TSS	Fetal Stomach	stomach
37	chr19:44101000-44101800	Flanking Active TSS	Fetal Thymus	thymus
38	chr19:44101000-44101800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr19:44101000-44101800	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr19:44101000-44101800	Flanking Active TSS	Thymus	Thymus
41	chr19:44101000-44102000	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr19:44101000-44102000	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr19:44101000-44102200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:44101000-44102200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:44101000-44102200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr19:44101000-44102200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:44101000-44102200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr19:44101000-44102200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr19:44101000-44102200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr19:44101000-44102200	Flanking Active TSS	Hela-S3	cervix

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