Variant report

Variant	rs4496855
Chromosome Location	chr7:22189098-22189099
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	EP300	chr7:22186225-22189110	SK-N-SH	brain:	n/a	chr7:22188167-22188181 chr7:22188063-22188072

No.	Distal block	Cell Line	Cell type
1	chr7:22187653..22189358-chr7:22192551..22194258,2	MCF-7	breast:
2	chr7:22185300..22188269-chr7:22188611..22192346,3	K562	blood:
3	chr7:22182780..22184879-chr7:22188004..22190360,2	MCF-7	breast:

Variant related genes	Relation type
RAPGEF5	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10228358	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10242092	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268307	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268516	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10271658	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282222	1.00[CHB][hapmap]
rs10950895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763898	1.00[CHB][hapmap]
rs12530484	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs12533150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223956	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981598	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079478	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs28411164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28435496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28450495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28587984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28656168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41273945	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41273948	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41273951	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41273957	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41273963	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4291165	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4590334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719686	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722104	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722105	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722106	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722108	1.00[CHB][hapmap]
rs4722110	1.00[CHB][hapmap]
rs5014150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944433	0.87[AFR][1000 genomes]
rs6948973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949461	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960216	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965394	1.00[CHB][hapmap]
rs6971344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808688	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886139	1.00[CHB][hapmap]

No data

Chromatin state (count:72 , 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	chr7:22163000-22190600	Strong transcription	Fetal Thymus	thymus
5	chr7:22168000-22195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:22168000-22195800	Weak transcription	NHEK	skin
7	chr7:22174400-22190400	Strong transcription	HepG2	liver
8	chr7:22175200-22193600	Weak transcription	HUVEC	blood vessel
9	chr7:22176200-22198200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:22176400-22203200	Weak transcription	Stomach Mucosa	stomach
11	chr7:22177800-22195800	Weak transcription	HMEC	breast
12	chr7:22179400-22191400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:22179600-22206600	Weak transcription	Fetal Stomach	stomach
14	chr7:22181400-22192800	Weak transcription	Right Ventricle	heart
15	chr7:22181400-22193600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:22181400-22199000	Weak transcription	Gastric	stomach
17	chr7:22181800-22193200	Weak transcription	Placenta	Placenta
18	chr7:22183600-22192400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:22183600-22192800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:22183600-22193000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:22184400-22189800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:22184400-22193400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:22184400-22195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:22184600-22240600	Weak transcription	Colonic Mucosa	Colon
25	chr7:22184800-22192600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:22185000-22192600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:22185400-22192400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:22186200-22190000	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr7:22186600-22190000	Strong transcription	Esophagus	oesophagus
30	chr7:22186600-22193000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:22186800-22191800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:22187000-22191600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:22187000-22204800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:22187200-22192600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:22187200-22193600	Weak transcription	Adipose Nuclei	Adipose
36	chr7:22187200-22199000	Weak transcription	Fetal Brain Male	brain
37	chr7:22187400-22189400	Genic enhancers	Brain Anterior Caudate	brain
38	chr7:22187400-22190600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:22187400-22190600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr7:22187400-22191400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:22187400-22192600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:22187400-22192600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:22187600-22189400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:22187600-22189400	Genic enhancers	Brain Angular Gyrus	brain
45	chr7:22187600-22189800	Strong transcription	Pancreas	Pancrea
46	chr7:22187600-22190000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr7:22187600-22190000	Strong transcription	Lung	lung
48	chr7:22187600-22190200	Strong transcription	Fetal Intestine Small	intestine
49	chr7:22187600-22190200	Strong transcription	Thymus	Thymus
50	chr7:22187600-22193000	Weak transcription	Brain Germinal Matrix	brain

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