Variant report

Variant	rs72858695
Chromosome Location	chr4:77928353-77928354
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	JUN	chr4:77928173-77929418	HUVEC	blood vessel:	n/a	chr4:77928771-77928779 chr4:77928438-77928449
2	PBX3	chr4:77927984-77928910	SK-N-SH	brain:	n/a	chr4:77928623-77928632
3	PBX3	chr4:77928023-77928905	SK-N-SH	brain:	n/a	chr4:77928623-77928632
4	POLR2A	chr4:77928324-77928534	ProgFib	skin:	n/a	n/a
5	GATA3	chr4:77927845-77928417	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr4:77928318-77928806	HUVEC	blood vessel:	n/a	n/a
7	ZNF143	chr4:77928215-77928670	H1-hESC	embryonic stem cell:	n/a	chr4:77928353-77928368 chr4:77928352-77928371
8	POLR2A	chr4:77928048-77929689	HUVEC	blood vessel:	n/a	n/a
9	TCF12	chr4:77927978-77929017	SK-N-SH	brain:	n/a	n/a
10	EP300	chr4:77928075-77928373	SK-N-SH_RA	brain:	n/a	n/a
11	FOS	chr4:77928298-77929573	HUVEC	blood vessel:	n/a	chr4:77928771-77928779 chr4:77928438-77928449 chr4:77928769-77928780
12	EP300	chr4:77928109-77928467	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr4:77928213-77931388	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr4:77928321-77929711	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77927278..77929882-chr4:77994824..77997804,2	MCF-7	breast:
2	chr4:77888598..77890964-chr4:77928304..77930541,2	K562	blood:

Variant related genes	Relation type
SEPT11	TF binding region
ENSG00000118816	Chromatin interaction

rs_ID	r²[population]
rs4252872	0.85[ASN][1000 genomes]
rs4252880	0.85[ASN][1000 genomes]
rs4252931	0.85[ASN][1000 genomes]
rs59044450	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72858646	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72860205	0.92[ASN][1000 genomes]
rs72860219	0.85[ASN][1000 genomes]
rs72860221	0.85[ASN][1000 genomes]
rs72860222	0.85[ASN][1000 genomes]
rs72860225	0.85[ASN][1000 genomes]

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77903600-77936000	Weak transcription	Esophagus	oesophagus
2	chr4:77915600-77936800	Weak transcription	Brain Substantia Nigra	brain
3	chr4:77917400-77928400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr4:77918400-77937400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:77919800-77928600	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:77920000-77932200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:77920200-77928400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:77920200-77940200	Weak transcription	Spleen	Spleen
9	chr4:77920400-77928400	Weak transcription	Fetal Intestine Small	intestine
10	chr4:77920400-77936000	Weak transcription	Gastric	stomach
11	chr4:77920400-77936200	Weak transcription	Colonic Mucosa	Colon
12	chr4:77921800-77931200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:77923400-77932200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:77924400-77928400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:77924400-77928400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:77924400-77928400	Weak transcription	Aorta	Aorta
17	chr4:77924400-77928400	Strong transcription	HMEC	breast
18	chr4:77924600-77930800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:77924600-77936000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:77924600-77937000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:77924600-77940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:77924800-77941000	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:77925000-77940200	Weak transcription	Fetal Brain Male	brain
24	chr4:77925600-77928400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:77926400-77934400	Genic enhancers	NHLF	lung
26	chr4:77926800-77928800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr4:77926800-77929000	Genic enhancers	Muscle Satellite Cultured Cells	--
28	chr4:77926800-77930200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:77926800-77931000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:77926800-77933000	Genic enhancers	HSMM	muscle
31	chr4:77927000-77928400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:77927000-77928800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:77927000-77930800	Genic enhancers	Osteobl	bone
34	chr4:77927000-77931200	Enhancers	Primary hematopoietic stem cells	blood
35	chr4:77927000-77931400	Genic enhancers	HSMMtube	muscle
36	chr4:77927200-77929200	Strong transcription	HepG2	liver
37	chr4:77927200-77930000	Genic enhancers	NH-A	brain
38	chr4:77927200-77937600	Genic enhancers	NHDF-Ad	bronchial
39	chr4:77927400-77929400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:77927400-77929600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:77927400-77930200	Strong transcription	K562	blood
42	chr4:77927400-77930400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:77927600-77928800	Enhancers	Fetal Heart	heart
44	chr4:77927600-77929000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:77927600-77929800	Enhancers	Brain Anterior Caudate	brain
46	chr4:77927600-77929800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr4:77927600-77931000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr4:77927600-77931400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr4:77927800-77928400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr4:77927800-77928400	Strong transcription	Ovary	ovary

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