Variant report

Variant	rs154601
Chromosome Location	chr5:115827945-115827946
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	SPI1	chr5:115827742-115828366	HL-60	blood:	n/a	chr5:115828271-115828284
2	PBX3	chr5:115827565-115828174	SK-N-SH	brain:	n/a	n/a
3	FOXP2	chr5:115827784-115827996	SK-N-MC	brain:	n/a	n/a
4	CEBPB	chr5:115827697-115828094	IMR90	lung:	n/a	n/a
5	STAT3	chr5:115827752-115828175	MCF10A-Er-Src	breast:	n/a	n/a
6	SPI1	chr5:115827940-115828292	GM12878	blood:	n/a	chr5:115828271-115828284
7	STAT3	chr5:115827767-115828042	MCF10A-Er-Src	breast:	n/a	n/a
8	SPI1	chr5:115827747-115828286	GM12878	blood:	n/a	chr5:115828271-115828284
9	EP300	chr5:115827779-115828120	K562	blood:	n/a	chr5:115827998-115828012
10	FOS	chr5:115827699-115828111	MCF10A-Er-Src	breast:	n/a	n/a
11	FOSL2	chr5:115827659-115828176	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr5:115827700-115828183	HL-60	blood:	n/a	n/a
13	MYC	chr5:115827769-115828066	MCF10A-Er-Src	breast:	n/a	n/a
14	ATF1	chr5:115827792-115828139	K562	blood:	n/a	n/a
15	EP300	chr5:115826027-115829624	SK-N-SH	brain:	n/a	chr5:115827998-115828012
16	CEBPB	chr5:115827776-115828067	K562	blood:	n/a	n/a
17	RXRA	chr5:115827546-115828159	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr5:115827401-115828795	SK-N-SH	brain:	n/a	chr5:115828485-115828502
19	POLR2A	chr5:115827757-115828002	H1-hESC	embryonic stem cell:	n/a	n/a
20	PBX3	chr5:115827362-115828221	SK-N-SH	brain:	n/a	n/a
21	BHLHE40	chr5:115827794-115828038	K562	blood:	n/a	n/a
22	STAT3	chr5:115827756-115828051	MCF10A-Er-Src	breast:	n/a	n/a
23	RCOR1	chr5:115827773-115828681	K562	blood:	n/a	n/a
24	FOS	chr5:115827743-115828070	MCF10A-Er-Src	breast:	n/a	n/a
25	TEAD4	chr5:115827618-115828161	SK-N-SH	brain:	n/a	n/a
26	EP300	chr5:115827631-115828106	SK-N-SH_RA	brain:	n/a	chr5:115827998-115828012
27	RAD21	chr5:115827716-115828017	SK-N-SH_RA	brain:	n/a	n/a
28	PML	chr5:115827724-115828198	K562	blood:	n/a	n/a
29	SPI1	chr5:115827899-115828326	HL-60	blood:	n/a	chr5:115828271-115828284
30	MAX	chr5:115827651-115828109	SK-N-SH	brain:	n/a	n/a
31	CEBPB	chr5:115827735-115828027	HepG2	liver:	n/a	n/a
32	POLR2A	chr5:115827637-115828033	SK-N-SH	brain:	n/a	n/a
33	TCF12	chr5:115827359-115828893	SK-N-SH	brain:	n/a	n/a
34	MAX	chr5:115827671-115828124	SK-N-SH	brain:	n/a	n/a
35	ZNF384	chr5:115827846-115828098	K562	blood:	n/a	n/a
36	MYC	chr5:115827766-115828034	NB4	blood:	n/a	n/a
37	POLR2A	chr5:115827715-115828207	HL-60	blood:	n/a	n/a
38	TEAD4	chr5:115827630-115828745	K562	blood:	n/a	n/a
39	CEBPB	chr5:115827752-115827984	K562	blood:	n/a	n/a
40	RAD21	chr5:115827617-115828026	SK-N-SH_RA	brain:	n/a	n/a
41	SPI1	chr5:115827927-115828260	GM12891	blood:	n/a	n/a
42	EP300	chr5:115827649-115827986	SK-N-SH_RA	brain:	n/a	n/a
43	NFIC	chr5:115827570-115828168	SK-N-SH	brain:	n/a	n/a
44	RUNX3	chr5:115827686-115828184	GM12878	blood:	n/a	chr5:115827842-115827857
45	MYC	chr5:115827733-115828138	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr5:115827674-115828092	SK-N-MC	brain:	n/a	n/a
47	NFIC	chr5:115827319-115828262	SK-N-SH	brain:	n/a	n/a
48	ZNF384	chr5:115827779-115828177	GM12878	blood:	n/a	n/a
49	JUND	chr5:115827837-115828204	K562	blood:	n/a	n/a
50	RUNX3	chr5:115827611-115828174	GM12878	blood:	n/a	chr5:115827842-115827857

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115827002..115828823-chr5:115832188..115835084,2	K562	blood:
2	chr5:115827699..115829534-chr5:115840704..115843590,2	K562	blood:

Variant related genes	Relation type
SEMA6A	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs154603	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs17509874	0.81[CHB][hapmap]
rs2287684	0.83[ASN][1000 genomes]
rs6861198	0.88[CHB][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs154601	VWDE	trans	lymphoblastoid	seeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115783600-115829600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:115791600-115838000	Weak transcription	Right Ventricle	heart
3	chr5:115796000-115833400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:115797000-115834800	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr5:115797000-115838400	Strong transcription	Placenta	Placenta
6	chr5:115797400-115833800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:115797600-115834600	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr5:115797800-115834800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:115798000-115833200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:115798000-115834600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:115799000-115830400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:115799400-115832000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr5:115803400-115833200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:115813600-115831800	Strong transcription	Fetal Stomach	stomach
15	chr5:115813600-115832000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:115813800-115830600	Weak transcription	HepG2	liver
17	chr5:115813800-115833600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:115813800-115851000	Weak transcription	Liver	Liver
19	chr5:115814000-115830200	Weak transcription	Esophagus	oesophagus
20	chr5:115814000-115850200	Weak transcription	Small Intestine	intestine
21	chr5:115816000-115830400	Weak transcription	Lung	lung
22	chr5:115816000-115838400	Weak transcription	Spleen	Spleen
23	chr5:115816400-115830000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:115816400-115830400	Weak transcription	Primary B cells from cord blood	blood
25	chr5:115816800-115840000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:115817600-115828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:115817600-115829600	Weak transcription	Pancreas	Pancrea
28	chr5:115818600-115830000	Weak transcription	Colonic Mucosa	Colon
29	chr5:115818600-115833200	Weak transcription	Fetal Brain Male	brain
30	chr5:115820000-115830200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:115820000-115832600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:115821400-115828600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:115821400-115833400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr5:115821600-115828800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr5:115822600-115830000	Weak transcription	Adipose Nuclei	Adipose
36	chr5:115822600-115832200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:115823000-115842600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:115823200-115832000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr5:115824000-115833600	Weak transcription	Ovary	ovary
40	chr5:115824200-115828000	Weak transcription	Fetal Brain Female	brain
41	chr5:115824400-115828000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:115825400-115828200	Weak transcription	Fetal Kidney	kidney
43	chr5:115825400-115830000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:115825400-115830200	Weak transcription	Left Ventricle	heart
45	chr5:115825600-115833200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr5:115826000-115828600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr5:115826200-115828800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:115826600-115828000	Enhancers	Dnd41	blood
49	chr5:115826600-115828200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:115826600-115828800	Enhancers	HSMM	muscle

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