Variant report

Variant	rs57531278
Chromosome Location	chr3:196361571-196361572
allele	A/G
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	POLR2A	chr3:196358486-196362153	NB4	blood:	n/a	n/a
2	MTA3	chr3:196360242-196361605	GM12878	blood:	n/a	n/a
3	NFIC	chr3:196360977-196361644	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:196360291-196362194	HL-60	blood:	n/a	n/a
5	POLR2A	chr3:196360275-196361624	HL-60	blood:	n/a	n/a
6	PML	chr3:196361026-196361610	GM12878	blood:	n/a	n/a
7	SPI1	chr3:196360497-196361734	GM12878	blood:	n/a	chr3:196361290-196361299 chr3:196360987-196361000
8	RELA	chr3:196360388-196361840	GM12891	blood:	n/a	chr3:196361370-196361379 chr3:196361370-196361379
9	SPI1	chr3:196361124-196361575	GM12891	blood:	n/a	chr3:196361290-196361299
10	RELA	chr3:196360917-196361579	GM19099	blood:	n/a	chr3:196361370-196361379 chr3:196361370-196361379

No.	Distal block	Cell Line	Cell type
1	chr3:196356110..196358354-chr3:196361482..196363401,2	MCF-7	breast:
2	chr3:196312738..196315414-chr3:196359776..196362202,2	K562	blood:
3	chr3:196360616..196362488-chr3:196400415..196403548,3	K562	blood:

Variant related genes	Relation type
LINC01063	TF binding region
NRROS	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
2	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats 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	43 gene(s)	inside rSNPs	diseases
6	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv878188	chr3:196312124-196553867	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1003135	chr3:196348721-196738953	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	esv3396603	chr3:196360505-196362903	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	esv3408222	chr3:196361347-196361727	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196359600-196362200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:196359800-196362200	Flanking Active TSS	Fetal Thymus	thymus
3	chr3:196359800-196362200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr3:196360000-196362000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:196360000-196363000	Weak transcription	NHDF-Ad	bronchial
6	chr3:196360000-196366200	Weak transcription	Esophagus	oesophagus
7	chr3:196360200-196361800	Enhancers	Fetal Muscle Trunk	muscle
8	chr3:196360200-196362000	Enhancers	Fetal Muscle Leg	muscle
9	chr3:196360200-196362000	Enhancers	Spleen	Spleen
10	chr3:196360200-196362200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr3:196360200-196362400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr3:196360200-196363000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:196360200-196366000	Weak transcription	Right Atrium	heart
14	chr3:196360200-196366200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:196360200-196366200	Weak transcription	Right Ventricle	heart
16	chr3:196360400-196362000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr3:196360400-196362400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:196360400-196365600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:196360400-196365600	Weak transcription	Brain Substantia Nigra	brain
20	chr3:196360400-196365800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:196360600-196361600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:196360600-196362200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:196360600-196365600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:196360600-196365800	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:196360800-196361600	Enhancers	Primary T cells from cord blood	blood
26	chr3:196360800-196361800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:196360800-196362200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:196360800-196362200	Flanking Active TSS	Dnd41	blood
29	chr3:196360800-196363200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr3:196360800-196365600	Weak transcription	Brain Germinal Matrix	brain
31	chr3:196360800-196365600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:196360800-196365800	Weak transcription	Brain Anterior Caudate	brain
33	chr3:196360800-196366000	Weak transcription	Small Intestine	intestine
34	chr3:196360800-196366200	Weak transcription	Pancreas	Pancrea
35	chr3:196361000-196362000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr3:196361000-196362000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:196361000-196362000	Weak transcription	Fetal Intestine Large	intestine
38	chr3:196361000-196362000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:196361000-196362200	Enhancers	GM12878-XiMat	blood
40	chr3:196361000-196362400	Enhancers	Primary B cells from peripheral blood	blood
41	chr3:196361000-196363000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:196361000-196363000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:196361000-196363200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:196361000-196363400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:196361000-196363600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:196361000-196364400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:196361000-196364600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr3:196361000-196365600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr3:196361000-196365600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr3:196361000-196365800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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