Variant report

Variant	rs10404944
Chromosome Location	chr19:41275776-41275777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41275653-41276080	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41256102..41258357-chr19:41273120..41276107,2	MCF-7	breast:
2	chr19:41274845..41276848-chr19:41281762..41284893,3	K562	blood:
3	chr19:41274845..41278396-chr19:41279079..41284996,6	K562	blood:
4	chr19:41273890..41276228-chr19:41304593..41306806,2	MCF-7	breast:
5	chr19:41274913..41277025-chr19:41302657..41305848,3	K562	blood:
6	chr19:41267917..41272263-chr19:41274538..41279747,5	K562	blood:

No data

Variant related genes	Relation type
MIA-RAB4B	TF binding region
MIA	TF binding region
ENSG00000269858	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000167578	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10405633	0.83[AFR][1000 genomes]
rs10412175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425480	0.91[EUR][1000 genomes]
rs56101381	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802033	chr19:41256131-41284240	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
2	esv1801805	chr19:41256581-41284363	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
3	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41258000-41283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41260600-41277200	Strong transcription	Fetal Brain Female	brain
3	chr19:41260800-41283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:41261800-41276800	Strong transcription	Fetal Intestine Small	intestine
5	chr19:41261800-41278200	Strong transcription	Fetal Stomach	stomach
6	chr19:41261800-41282800	Weak transcription	Right Atrium	heart
7	chr19:41262000-41276200	Strong transcription	Thymus	Thymus
8	chr19:41264600-41278000	Strong transcription	A549	lung
9	chr19:41270400-41282600	Weak transcription	Fetal Brain Male	brain
10	chr19:41271800-41276800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:41271800-41279800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:41271800-41279800	Weak transcription	HMEC	breast
13	chr19:41271800-41282600	Weak transcription	Fetal Kidney	kidney
14	chr19:41271800-41282600	Weak transcription	HSMM	muscle
15	chr19:41271800-41283000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr19:41272000-41276800	Weak transcription	Primary T cells from cord blood	blood
17	chr19:41272000-41279400	Weak transcription	Ovary	ovary
18	chr19:41272000-41280400	Weak transcription	NHEK	skin
19	chr19:41272000-41280600	Weak transcription	NH-A	brain
20	chr19:41272000-41281200	Weak transcription	Osteobl	bone
21	chr19:41272000-41282600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:41272000-41282600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:41272000-41282600	Weak transcription	Brain Angular Gyrus	brain
24	chr19:41272000-41282600	Weak transcription	HUVEC	blood vessel
25	chr19:41272000-41282800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:41272000-41282800	Weak transcription	Psoas Muscle	Psoas
27	chr19:41272000-41282800	Weak transcription	Small Intestine	intestine
28	chr19:41272000-41282800	Weak transcription	NHDF-Ad	bronchial
29	chr19:41272200-41276800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:41272200-41276800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr19:41272200-41277000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr19:41272200-41277000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr19:41272200-41280800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:41272200-41280800	Weak transcription	Stomach Mucosa	stomach
35	chr19:41272200-41281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:41272200-41281200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:41272200-41281200	Weak transcription	K562	blood
38	chr19:41272200-41282600	Weak transcription	Fetal Lung	lung
39	chr19:41272200-41282600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr19:41272200-41282600	Weak transcription	Dnd41	blood
41	chr19:41272200-41282600	Weak transcription	HSMMtube	muscle
42	chr19:41272200-41282600	Weak transcription	NHLF	lung
43	chr19:41272200-41282800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:41272200-41282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:41272200-41282800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:41272200-41282800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:41272200-41282800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr19:41272200-41282800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:41272200-41282800	Weak transcription	Aorta	Aorta
50	chr19:41272200-41282800	Weak transcription	Brain Inferior Temporal Lobe	brain

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