Variant report

Variant	rs3823663
Chromosome Location	chr7:22187299-22187300
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	EP300	chr7:22186225-22189110	SK-N-SH	brain:	n/a	chr7:22188167-22188181 chr7:22188063-22188072
2	MXI1	chr7:22186250-22187546	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:22185300..22188269-chr7:22188611..22192346,3	K562	blood:

Variant related genes	Relation type
RAPGEF5	TF binding region

rs_ID	r²[population]
rs10266511	1.00[CHB][hapmap]
rs10276439	1.00[CHB][hapmap]
rs10276809	1.00[CHB][hapmap]
rs17709607	1.00[CHB][hapmap]
rs17766562	1.00[CHB][hapmap]
rs17766936	1.00[CHB][hapmap]
rs3807525	1.00[CHB][hapmap]
rs4288272	1.00[CHB][hapmap]
rs6959894	1.00[CHB][hapmap]
rs6960745	1.00[CHB][hapmap]
rs6972298	1.00[CHB][hapmap]
rs7782218	1.00[CHB][hapmap]
rs883073	1.00[CHB][hapmap]

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22153000-22193000	Strong transcription	Dnd41	blood
2	chr7:22159800-22214000	Weak transcription	Small Intestine	intestine
3	chr7:22162200-22198000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:22163000-22187800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:22163000-22190600	Strong transcription	Fetal Thymus	thymus
6	chr7:22168000-22195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:22168000-22195800	Weak transcription	NHEK	skin
8	chr7:22174400-22190400	Strong transcription	HepG2	liver
9	chr7:22175200-22193600	Weak transcription	HUVEC	blood vessel
10	chr7:22176200-22198200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:22176400-22203200	Weak transcription	Stomach Mucosa	stomach
12	chr7:22177800-22195800	Weak transcription	HMEC	breast
13	chr7:22179400-22191400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:22179600-22206600	Weak transcription	Fetal Stomach	stomach
15	chr7:22181400-22192800	Weak transcription	Right Ventricle	heart
16	chr7:22181400-22193600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:22181400-22199000	Weak transcription	Gastric	stomach
18	chr7:22181800-22193200	Weak transcription	Placenta	Placenta
19	chr7:22183600-22188800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:22183600-22192400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:22183600-22192800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:22183600-22193000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:22184200-22188000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:22184400-22187600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:22184400-22188200	Weak transcription	Aorta	Aorta
26	chr7:22184400-22189800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:22184400-22193400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:22184400-22195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:22184600-22187600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:22184600-22240600	Weak transcription	Colonic Mucosa	Colon
31	chr7:22184800-22187800	Weak transcription	Primary B cells from cord blood	blood
32	chr7:22184800-22188200	Weak transcription	Spleen	Spleen
33	chr7:22184800-22192600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:22185000-22189000	Weak transcription	Left Ventricle	heart
35	chr7:22185000-22192600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:22185400-22187400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:22185400-22187600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:22185400-22187600	Weak transcription	Fetal Intestine Small	intestine
39	chr7:22185400-22187600	Weak transcription	Lung	lung
40	chr7:22185400-22187600	Weak transcription	Pancreas	Pancrea
41	chr7:22185400-22187600	Weak transcription	Thymus	Thymus
42	chr7:22185400-22188000	Weak transcription	Fetal Intestine Large	intestine
43	chr7:22185400-22188800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:22185400-22192400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:22185600-22188200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:22185600-22188400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:22185800-22187800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:22186200-22190000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr7:22186400-22187400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:22186400-22188200	Weak transcription	Liver	Liver

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