Variant report

Variant	rs10281
Chromosome Location	chr19:40953771-40953772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40944883-40955137	K562	blood:	n/a	n/a
2	POLR2A	chr19:40953578-40955405	K562	blood:	n/a	n/a
3	CTCF	chr19:40953622-40954013	T-47D	breast:	n/a	n/a
4	POLR2A	chr19:40953647-40954484	K562	blood:	n/a	n/a
5	EP300	chr19:40953677-40954061	T-47D	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40952414..40954708-chr19:40961386..40963710,2	K562	blood:
2	chr19:40948595..40953789-chr19:40967165..40973013,15	MCF-7	breast:
3	chr19:40951142..40953802-chr19:40962928..40965821,2	MCF-7	breast:
4	chr19:40942505..40944262-chr19:40952236..40954186,2	K562	blood:
5	chr19:40929942..40935093-chr19:40947472..40955743,23	K562	blood:
6	chr19:40945484..40955522-chr19:40966442..40973559,31	MCF-7	breast:
7	chr19:40925098..40933993-chr19:40944045..40956524,41	K562	blood:
8	chr19:40919789..40935162-chr19:40946854..40955873,58	MCF-7	breast:

No data

Variant related genes	Relation type
SERTAD3	TF binding region
ENSG00000197019	Chromatin interaction
ENSG00000090013	Chromatin interaction
ENSG00000160460	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10411133	1.00[MEX][hapmap]
rs12459061	1.00[CHD][hapmap]
rs34804421	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	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
6	nsv911709	chr19:40928944-41060616	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40951000-40970200	Weak transcription	Small Intestine	intestine
2	chr19:40951000-40970400	Weak transcription	Fetal Heart	heart
3	chr19:40951000-40970600	Weak transcription	Psoas Muscle	Psoas
4	chr19:40951000-40971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:40951200-40953800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr19:40951200-40953800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr19:40951200-40954000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:40951200-40954200	Weak transcription	Brain Germinal Matrix	brain
9	chr19:40951200-40954400	Weak transcription	HSMM	muscle
10	chr19:40951200-40956200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr19:40951200-40956800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:40951200-40957200	Weak transcription	Primary B cells from cord blood	blood
13	chr19:40951200-40957600	Weak transcription	Primary T cells from cord blood	blood
14	chr19:40951200-40957800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:40951200-40961200	Weak transcription	Thymus	Thymus
16	chr19:40951200-40967000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr19:40951200-40969000	Weak transcription	NHDF-Ad	bronchial
18	chr19:40951200-40969800	Weak transcription	Right Atrium	heart
19	chr19:40951200-40970400	Weak transcription	Brain Angular Gyrus	brain
20	chr19:40951200-40970400	Weak transcription	Brain Substantia Nigra	brain
21	chr19:40951200-40970400	Weak transcription	HSMMtube	muscle
22	chr19:40951200-40970400	Weak transcription	NH-A	brain
23	chr19:40951200-40970600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:40951200-40970600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr19:40951400-40953800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:40951400-40953800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:40951400-40955800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:40951400-40957800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr19:40951400-40958000	Weak transcription	Dnd41	blood
30	chr19:40951600-40958200	Weak transcription	HepG2	liver
31	chr19:40951600-40967000	Strong transcription	Fetal Intestine Small	intestine
32	chr19:40951800-40954800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr19:40952000-40956600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:40952000-40958600	Strong transcription	Fetal Stomach	stomach
35	chr19:40952000-40965000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr19:40952000-40969000	Weak transcription	Osteobl	bone
37	chr19:40952000-40970000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr19:40952000-40970400	Weak transcription	NHLF	lung
39	chr19:40952200-40955400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:40952200-40956800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:40952200-40959200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:40952200-40959200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:40952200-40959200	Weak transcription	NHEK	skin
44	chr19:40952200-40965000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr19:40952200-40970800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:40952400-40956400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:40952400-40956800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr19:40952400-40957000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr19:40952400-40959000	Weak transcription	HMEC	breast
50	chr19:40952400-40963600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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