Variant report

Variant	rs185064606
Chromosome Location	chr5:118410209-118410210
allele	C/T
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	SPI1	chr5:118409764-118410721	GM12878	blood:	n/a	chr5:118410045-118410052 chr5:118410231-118410240 chr5:118410056-118410065
2	CHD2	chr5:118409924-118410526	GM12878	blood:	n/a	n/a
3	PML	chr5:118409861-118410723	GM12878	blood:	n/a	n/a
4	TBP	chr5:118409927-118410736	GM12878	blood:	n/a	n/a
5	FOXM1	chr5:118409862-118410658	GM12878	blood:	n/a	n/a
6	EBF1	chr5:118410085-118410583	GM12878	blood:	n/a	n/a
7	RUNX3	chr5:118409853-118410694	GM12878	blood:	n/a	n/a
8	FOXM1	chr5:118409842-118410587	GM12878	blood:	n/a	n/a
9	EP300	chr5:118409990-118410570	GM12878	blood:	n/a	chr5:118410226-118410240 chr5:118410052-118410066
10	TBP	chr5:118410035-118410235	K562	blood:	n/a	n/a
11	ATF2	chr5:118409872-118410675	GM12878	blood:	n/a	n/a
12	BHLHE40	chr5:118410102-118410677	GM12878	blood:	n/a	n/a
13	MTA3	chr5:118409802-118410578	GM12878	blood:	n/a	n/a
14	NFIC	chr5:118409913-118410658	GM12878	blood:	n/a	n/a
15	CEBPB	chr5:118409798-118410657	GM12878	blood:	n/a	n/a
16	ATF2	chr5:118409921-118410605	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:118409809-118410613	GM12878	blood:	n/a	n/a
18	SPI1	chr5:118409972-118410383	GM12891	blood:	n/a	chr5:118410045-118410052 chr5:118410231-118410240 chr5:118410056-118410065
19	MYC	chr5:118409887-118410706	K562	blood:	n/a	n/a
20	EP300	chr5:118410016-118410508	GM12878	blood:	n/a	chr5:118410226-118410240 chr5:118410052-118410066
21	MTA3	chr5:118409913-118410628	GM12878	blood:	n/a	n/a
22	CREB1	chr5:118409978-118410643	GM12878	blood:	n/a	n/a
23	CHD1	chr5:118409910-118410713	GM12878	blood:	n/a	n/a
24	ARID3A	chr5:118409996-118410235	K562	blood:	n/a	n/a
25	EP300	chr5:118409997-118410397	GM12878	blood:	n/a	chr5:118410226-118410240 chr5:118410052-118410066
26	IKZF1	chr5:118409963-118410602	GM12878	blood:	n/a	n/a
27	BATF	chr5:118410023-118410530	GM12878	blood:	n/a	n/a
28	BCLAF1	chr5:118409916-118410653	GM12878	blood:	n/a	chr5:118410231-118410240
29	IRF1	chr5:118410043-118410760	K562	blood:	n/a	chr5:118410230-118410244 chr5:118410229-118410249 chr5:118410231-118410245 chr5:118410235-118410248 chr5:118410227-118410241 chr5:118410232-118410243 chr5:118410234-118410248 chr5:118410229-118410243
30	POLR2A	chr5:118410145-118410707	GM12878	blood:	n/a	n/a
31	MXI1	chr5:118409973-118410555	GM12878	blood:	n/a	n/a
32	BCL11A	chr5:118410073-118410262	GM12878	blood:	n/a	chr5:118410231-118410240
33	MEF2A	chr5:118409850-118410468	GM12878	blood:	n/a	chr5:118409917-118409932
34	BATF	chr5:118409998-118410330	GM12878	blood:	n/a	n/a
35	NFIC	chr5:118409835-118410804	GM12878	blood:	n/a	n/a
36	SP1	chr5:118410044-118410418	GM12878	blood:	n/a	n/a
37	MEF2A	chr5:118409897-118410465	GM12878	blood:	n/a	chr5:118409917-118409932
38	NFATC1	chr5:118409920-118410620	GM12878	blood:	n/a	n/a
39	TBL1XR1	chr5:118410081-118410542	GM12878	blood:	n/a	n/a
40	SPI1	chr5:118410100-118410326	GM12878	blood:	n/a	chr5:118410231-118410240
41	RUNX3	chr5:118410036-118410516	GM12878	blood:	n/a	n/a
42	SPI1	chr5:118409963-118410481	GM12891	blood:	n/a	chr5:118410045-118410052 chr5:118410231-118410240 chr5:118410056-118410065
43	SPI1	chr5:118410041-118410365	GM12878	blood:	n/a	chr5:118410045-118410052 chr5:118410231-118410240 chr5:118410056-118410065

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118408484..118411107-chr5:118751959..118754643,2	K562	blood:
2	chr5:118405957..118409296-chr5:118409304..118413767,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249494	TF binding region
ENSG00000249494	Chromatin interaction
ENSG00000172869	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription 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	18 gene(s)	inside rSNPs	diseases
2	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3511406	chr5:118409810-118459495	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3511407	chr5:118409863-118459482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118405600-118410800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:118406000-118411000	Active TSS	GM12878-XiMat	blood
3	chr5:118407200-118410800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr5:118407600-118413000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:118407600-118423600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:118407800-118410600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:118407800-118410600	Enhancers	Brain Anterior Caudate	brain
8	chr5:118407800-118410600	Enhancers	Colon Smooth Muscle	Colon
9	chr5:118407800-118412400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr5:118407800-118413800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:118407800-118421600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:118407800-118456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:118408000-118410400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr5:118408000-118410600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:118408000-118414600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:118408000-118414600	Weak transcription	HSMM	muscle
17	chr5:118408200-118410600	Enhancers	Adipose Nuclei	Adipose
18	chr5:118408200-118412200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr5:118408400-118451800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:118408600-118410600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:118408600-118412200	Enhancers	Liver	Liver
22	chr5:118408600-118414400	Weak transcription	Osteobl	bone
23	chr5:118408600-118414600	Weak transcription	Fetal Intestine Small	intestine
24	chr5:118408600-118414800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:118408800-118410600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:118408800-118411800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:118408800-118414600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:118408800-118414800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:118409000-118410400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:118409000-118410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:118409000-118410800	Enhancers	HepG2	liver
32	chr5:118409000-118411400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:118409000-118411800	Weak transcription	Brain Germinal Matrix	brain
34	chr5:118409000-118412800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr5:118409000-118413200	Weak transcription	Fetal Brain Male	brain
36	chr5:118409000-118414200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:118409000-118414200	Weak transcription	Right Ventricle	heart
38	chr5:118409000-118414400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:118409000-118414400	Weak transcription	NHEK	skin
40	chr5:118409000-118414800	Weak transcription	Right Atrium	heart
41	chr5:118409000-118415600	Weak transcription	Left Ventricle	heart
42	chr5:118409000-118415800	Weak transcription	Fetal Muscle Leg	muscle
43	chr5:118409000-118420400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr5:118409000-118424000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:118409000-118435000	Weak transcription	Lung	lung
46	chr5:118409000-118471200	Weak transcription	Gastric	stomach
47	chr5:118409200-118410400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr5:118409200-118410600	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr5:118409200-118411800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:118409200-118411800	Weak transcription	Brain Substantia Nigra	brain

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