Variant report

Variant	rs7656485
Chromosome Location	chr4:77932779-77932780
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	chr4:77932710-77932849	ProgFib	skin:	n/a	n/a
2	CTCF	chr4:77932720-77932870	HepG2	liver:	n/a	n/a
3	CTCF	chr4:77932760-77932910	HFF	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77930980..77933174-chr4:77934782..77937279,2	MCF-7	breast:
2	chr4:77932387..77934435-chr4:77956473..77959096,2	K562	blood:

Variant related genes	Relation type
SEPT11	TF binding region
ENSG00000138758	Chromatin interaction

rs_ID	r²[population]
rs4252872	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252880	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs4252931	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs59044450	0.82[AFR][1000 genomes]
rs60011271	1.00[AMR][1000 genomes]
rs6532790	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858635	0.89[AFR][1000 genomes]
rs72858646	0.89[AFR][1000 genomes]
rs72860203	1.00[AMR][1000 genomes]
rs72860205	0.85[AFR][1000 genomes]
rs72860219	0.85[AFR][1000 genomes]
rs72860221	0.85[AFR][1000 genomes]
rs72860222	0.88[AFR][1000 genomes]
rs72860225	0.88[AFR][1000 genomes]
rs72861617	1.00[AMR][1000 genomes]
rs72861656	1.00[AMR][1000 genomes]

Chromatin state (count:123 , 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	chr4:77918400-77937400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:77920200-77940200	Weak transcription	Spleen	Spleen
5	chr4:77920400-77936000	Weak transcription	Gastric	stomach
6	chr4:77920400-77936200	Weak transcription	Colonic Mucosa	Colon
7	chr4:77924600-77936000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:77924600-77937000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:77924600-77940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:77924800-77941000	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:77925000-77940200	Weak transcription	Fetal Brain Male	brain
12	chr4:77926400-77934400	Genic enhancers	NHLF	lung
13	chr4:77926800-77933000	Genic enhancers	HSMM	muscle
14	chr4:77927200-77937600	Genic enhancers	NHDF-Ad	bronchial
15	chr4:77927800-77932800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:77928200-77960800	Strong transcription	Fetal Intestine Large	intestine
17	chr4:77928400-77936000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:77928400-77936200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:77928600-77934000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:77928600-77936000	Weak transcription	Brain Angular Gyrus	brain
21	chr4:77928600-77936400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:77928600-77940200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:77928600-77940200	Weak transcription	Right Ventricle	heart
24	chr4:77928600-77947600	Weak transcription	Psoas Muscle	Psoas
25	chr4:77928800-77932800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:77928800-77933800	Weak transcription	Right Atrium	heart
27	chr4:77928800-77935600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:77928800-77936000	Weak transcription	Pancreas	Pancrea
29	chr4:77928800-77936000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:77928800-77939200	Weak transcription	Fetal Intestine Small	intestine
31	chr4:77928800-77942400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr4:77929200-77933000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr4:77929200-77936000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:77929200-77936000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:77929200-77940000	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:77929200-77943000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:77929400-77932800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:77929400-77933800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr4:77929400-77934000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:77929400-77937600	Strong transcription	GM12878-XiMat	blood
41	chr4:77929400-77940200	Weak transcription	Primary B cells from cord blood	blood
42	chr4:77929400-77941600	Weak transcription	Thymus	Thymus
43	chr4:77929400-77944800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr4:77929400-77961800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr4:77929600-77933800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:77929600-77933800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:77929600-77933800	Weak transcription	Fetal Lung	lung
48	chr4:77929600-77936200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:77929600-77937600	Strong transcription	Fetal Muscle Leg	muscle
50	chr4:77929600-77942400	Strong transcription	Placenta	Placenta

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