Variant report

Variant	rs111948801
Chromosome Location	chr19:38400742-38400743
allele	A/C
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	USF2	chr19:38400459-38400774	GM12878	blood:	n/a	n/a
2	ZNF384	chr19:38400394-38400827	GM12878	blood:	n/a	n/a
3	MXI1	chr19:38400349-38400831	GM12878	blood:	n/a	chr19:38400635-38400644
4	BHLHE40	chr19:38400252-38400772	GM12878	blood:	n/a	n/a
5	MAX	chr19:38400486-38400776	GM12878	blood:	n/a	chr19:38400629-38400648 chr19:38400635-38400642 chr19:38400633-38400644 chr19:38400637-38400645 chr19:38400634-38400644 chr19:38400633-38400644 chr19:38400634-38400643 chr19:38400634-38400643

No.	Distal block	Cell Line	Cell type
1	chr19:38395556..38401665-chr19:38419693..38425913,12	MCF-7	breast:
2	chr19:38399136..38401318-chr19:38404847..38407238,2	MCF-7	breast:
3	chr19:38393450..38400778-chr19:38419865..38427350,17	MCF-7	breast:

Variant related genes	Relation type
WDR87	TF binding region
ENSG00000105738	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1064401	chr19:38387797-38427984	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061106	chr19:38400149-38448723	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv544001	chr19:38400149-38448723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38397000-38401000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr19:38398600-38422600	Weak transcription	Aorta	Aorta
3	chr19:38398800-38405200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:38398800-38433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:38399000-38400800	Enhancers	HepG2	liver
6	chr19:38399000-38401200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr19:38399000-38418400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:38399000-38422400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:38399200-38400800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr19:38399200-38401000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr19:38399200-38401200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr19:38399200-38401200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:38399200-38401400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr19:38399200-38401400	Weak transcription	HMEC	breast
15	chr19:38399200-38401800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr19:38399200-38402800	Weak transcription	Fetal Intestine Small	intestine
17	chr19:38399200-38404800	Weak transcription	Primary T cells from cord blood	blood
18	chr19:38399200-38405000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:38399200-38405400	Weak transcription	Adipose Nuclei	Adipose
20	chr19:38399200-38405400	Weak transcription	Fetal Muscle Leg	muscle
21	chr19:38399200-38405400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr19:38399200-38409400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr19:38399200-38411000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:38399200-38411000	Weak transcription	Stomach Mucosa	stomach
25	chr19:38399200-38411400	Weak transcription	NHEK	skin
26	chr19:38399200-38411800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:38399200-38411800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr19:38399200-38415600	Weak transcription	Hela-S3	cervix
29	chr19:38399200-38416000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:38399200-38422400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:38399200-38422600	Weak transcription	Fetal Lung	lung
32	chr19:38399200-38424600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:38399400-38405400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr19:38399600-38400800	Enhancers	NH-A	brain
35	chr19:38399600-38401200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:38399600-38402000	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr19:38399600-38403200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:38399600-38403400	Weak transcription	Fetal Stomach	stomach
39	chr19:38399600-38403800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:38399600-38404800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr19:38399600-38405400	Weak transcription	Colonic Mucosa	Colon
42	chr19:38399600-38409600	Weak transcription	NHLF	lung
43	chr19:38399600-38411400	Weak transcription	Esophagus	oesophagus
44	chr19:38399600-38422000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:38399600-38424000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:38399600-38424200	Weak transcription	Right Atrium	heart
47	chr19:38399600-38441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:38399800-38400800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr19:38399800-38404800	Weak transcription	Small Intestine	intestine
50	chr19:38399800-38405200	Weak transcription	Primary T cells fromperipheralblood	blood

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