Variant report

Variant	rs10403862
Chromosome Location	chr19:44098822-44098823
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:44098796-44099206	IMR90	lung:	n/a	n/a
2	CTCF	chr19:44098820-44099204	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr19:44098733-44099314	HCT-116	colon:	n/a	n/a
4	SMC3	chr19:44098806-44099203	GM12878	blood:	n/a	n/a
5	CTCF	chr19:44098810-44099157	SK-N-SH_RA	brain:	n/a	n/a
6	CREB1	chr19:44098777-44101325	GM12878	blood:	n/a	n/a
7	RAD21	chr19:44098804-44099198	HepG2	liver:	n/a	n/a
8	SMC3	chr19:44098625-44099724	SK-N-SH	brain:	n/a	n/a
9	YY1	chr19:44098811-44099179	HepG2	liver:	n/a	n/a
10	CTCF	chr19:44098820-44098970	WI-38	lung:	n/a	n/a
11	CTCF	chr19:44098793-44099222	K562	blood:	n/a	n/a
12	SP1	chr19:44098778-44099209	H1-hESC	embryonic stem cell:	n/a	n/a
13	RUNX3	chr19:44098746-44099738	GM12878	blood:	n/a	n/a
14	RAD21	chr19:44098781-44099189	GM12878	blood:	n/a	n/a
15	RAD21	chr19:44098770-44099248	ECC-1	luminal epithelium:	n/a	n/a
16	RAD21	chr19:44098806-44099187	Hela-S3	cervix:	n/a	n/a
17	YY1	chr19:44098810-44099119	GM12891	blood:	n/a	n/a
18	RAD21	chr19:44098775-44099146	GM12878	blood:	n/a	n/a
19	RAD21	chr19:44098821-44099173	A549	lung:	n/a	n/a
20	HCFC1	chr19:44098716-44099474	Hela-S3	cervix:	n/a	n/a
21	RAD21	chr19:44098811-44099128	GM12878	blood:	n/a	n/a
22	RAD21	chr19:44098780-44099174	HepG2	liver:	n/a	n/a
23	CTCF	chr19:44098612-44099509	SK-N-SH	brain:	n/a	n/a
24	UBTF	chr19:44098799-44099487	K562	blood:	n/a	n/a
25	ELF1	chr19:44098773-44099639	GM12878	blood:	n/a	n/a
26	PML	chr19:44098810-44099772	GM12878	blood:	n/a	n/a
27	CTCF	chr19:44098682-44099232	A549	lung:	n/a	n/a
28	RAD21	chr19:44098778-44099473	IMR90	lung:	n/a	n/a
29	ATF2	chr19:44098806-44099611	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:44098756-44099249	PFSK-1	brain:	n/a	n/a
31	YY1	chr19:44098791-44099190	H1-hESC	embryonic stem cell:	n/a	n/a
32	EP300	chr19:44098744-44099310	A549	lung:	n/a	n/a
33	CTCF	chr19:44098750-44099235	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr19:44098676-44099281	A549	lung:	n/a	n/a
35	CTCF	chr19:44098761-44099261	MCF-7	breast:	n/a	n/a
36	CTCF	chr19:44098757-44099210	HepG2	liver:	n/a	n/a
37	POLR2A	chr19:44098819-44099783	GM12892	blood:	n/a	n/a
38	CTCF	chr19:44098782-44099593	GM12878	blood:	n/a	n/a
39	CTCF	chr19:44098541-44099747	A549	lung:	n/a	chr19:44099690-44099711
40	CTCF	chr19:44098762-44099112	K562	blood:	n/a	n/a
41	RAD21	chr19:44098702-44099445	HCT-116	colon:	n/a	n/a
42	ZBTB7A	chr19:44098804-44099188	K562	blood:	n/a	n/a
43	REST	chr19:44098565-44101292	H1-neurons	neurons:	n/a	n/a
44	RAD21	chr19:44098790-44099125	A549	lung:	n/a	n/a
45	YY1	chr19:44098794-44099642	GM12878	blood:	n/a	n/a
46	CTCF	chr19:44098776-44099147	A549	lung:	n/a	n/a
47	CBX3	chr19:44098706-44099212	K562	blood:	n/a	n/a
48	MAX	chr19:44098752-44101257	A549	lung:	n/a	chr19:44100822-44100832
49	RAD21	chr19:44098748-44099417	HCT-116	colon:	n/a	n/a
50	MAX	chr19:44098804-44101150	A549	lung:	n/a	chr19:44100822-44100832

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:44077678..44083171-chr19:44093489..44103015,14	K562	blood:
2	chr19:44095727..44098221-chr19:44098700..44101460,5	MCF-7	breast:
3	chr19:44098785..44099380-chr19:44156228..44157158,2	MCF-7	breast:
4	chr19:44077687..44082496-chr19:44098234..44103069,7	MCF-7	breast:
5	chr19:44059108..44059674-chr19:44098601..44099306,2	MCF-7	breast:
6	chr19:44098671..44105555-chr19:44121892..44125342,15	MCF-7	breast:
7	chr19:44082767..44086072-chr19:44097414..44100193,3	MCF-7	breast:
8	chr19:44098736..44101941-chr19:44122253..44126181,8	MCF-7	breast:
9	chr19:44097777..44104240-chr19:44121602..44130880,30	K562	blood:
10	chr19:44098789..44101903-chr19:44171427..44174318,4	K562	blood:
11	chr19:44096922..44099842-chr19:44324178..44326451,2	K562	blood:
12	chr19:44078455..44080853-chr19:44098810..44102178,4	MCF-7	breast:
13	chr19:44063536..44067996-chr19:44097389..44100718,5	MCF-7	breast:
14	chr19:44039370..44040276-chr19:44098609..44099275,2	MCF-7	breast:
15	chr19:44028119..44031033-chr19:44098735..44101211,2	MCF-7	breast:
16	chr19:44097500..44104541-chr19:44116930..44130620,31	K562	blood:
17	chr19:44093767..44095435-chr19:44097697..44100110,2	MCF-7	breast:
18	chr19:44036790..44040633-chr19:44098075..44102401,5	K562	blood:
19	chr19:43937119..43937651-chr19:44098505..44099433,2	MCF-7	breast:

No data

Variant related genes	Relation type
SRRM5	TF binding region
ENSG00000268361	TF binding region
ZNF576	TF binding region
IRGQ	TF binding region
ENSG00000011422	Chromatin interaction
ENSG00000234465	Chromatin interaction
ENSG00000105767	Chromatin interaction
ENSG00000176472	Chromatin interaction
ENSG00000073050	Chromatin interaction
ENSG00000269583	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000159871	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000268361	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10404317	1.00[AMR][1000 genomes]
rs10408803	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10410931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10419957	1.00[AMR][1000 genomes]
rs10424087	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10424446	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3213238	1.00[AMR][1000 genomes]
rs3213304	1.00[AMR][1000 genomes]
rs3213320	1.00[AMR][1000 genomes]
rs3213324	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44085600-44099000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44086200-44099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:44095000-44099000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:44096600-44099600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:44097600-44099000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:44097800-44099000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:44097800-44099000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:44097800-44099000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr19:44097800-44099000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:44097800-44099000	Weak transcription	Gastric	stomach
11	chr19:44098000-44099000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr19:44098000-44099000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr19:44098000-44099000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:44098000-44099000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:44098000-44099000	Enhancers	Brain Substantia Nigra	brain
16	chr19:44098000-44099000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
17	chr19:44098000-44099400	Enhancers	Fetal Heart	heart
18	chr19:44098200-44099000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr19:44098200-44099000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:44098200-44099000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr19:44098200-44099000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:44098200-44099000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr19:44098200-44099000	Enhancers	Small Intestine	intestine
24	chr19:44098200-44099800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr19:44098400-44099000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:44098400-44099000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:44098400-44099000	Transcr. at gene 5' and 3'	NHLF	lung
28	chr19:44098400-44099400	Transcr. at gene 5' and 3'	Dnd41	blood
29	chr19:44098400-44101000	Active TSS	Hela-S3	cervix
30	chr19:44098400-44101000	Active TSS	HSMM	muscle
31	chr19:44098400-44101200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:44098600-44099000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:44098600-44099000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:44098600-44099000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:44098600-44099000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr19:44098600-44099000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr19:44098600-44099000	Enhancers	Primary hematopoietic stem cells	blood
38	chr19:44098600-44099000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr19:44098600-44099000	Enhancers	Stomach Mucosa	stomach
40	chr19:44098600-44099200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr19:44098600-44099200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
42	chr19:44098600-44099200	Transcr. at gene 5' and 3'	Right Ventricle	heart
43	chr19:44098600-44099200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
44	chr19:44098600-44099400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr19:44098600-44099400	Active TSS	HepG2	liver
46	chr19:44098600-44099800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr19:44098600-44100000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr19:44098600-44100000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr19:44098600-44100200	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr19:44098600-44100200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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