Variant report

Variant	rs4291165
Chromosome Location	chr7:22180259-22180260
allele	C/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	JUND	chr7:22180119-22180430	H1-hESC	embryonic stem cell:	n/a	chr7:22180281-22180290
2	TEAD4	chr7:22180130-22180629	H1-hESC	embryonic stem cell:	n/a	chr7:22180381-22180390

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:22170710..22173023-chr7:22178648..22180924,2	K562	blood:

Variant related genes	Relation type
RAPGEF5	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10228358	1.00[ASN][1000 genomes]
rs10242092	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250355	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255486	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268307	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268516	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10271658	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282222	1.00[CHB][hapmap]
rs10950895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763898	1.00[CHB][hapmap]
rs12530484	1.00[CHB][hapmap]
rs12533150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223956	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981598	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079478	1.00[CHB][hapmap]
rs28411164	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28435496	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28450495	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28587984	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28656168	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716840	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41273945	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41273948	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41273951	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41273957	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41273963	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496855	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];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640962	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719686	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722102	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722104	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722105	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722106	0.83[AMR][1000 genomes];0.92[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];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461640	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461641	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949461	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960216	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965394	1.00[CHB][hapmap]
rs6971344	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808688	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809342	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886139	1.00[CHB][hapmap]

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22153000-22193000	Strong transcription	Dnd41	blood
2	chr7:22156000-22181000	Weak transcription	Gastric	stomach
3	chr7:22156000-22186600	Weak transcription	Brain Germinal Matrix	brain
4	chr7:22156800-22186400	Strong transcription	Liver	Liver
5	chr7:22159800-22214000	Weak transcription	Small Intestine	intestine
6	chr7:22160400-22183000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:22162200-22181400	Weak transcription	Primary T cells from cord blood	blood
8	chr7:22162200-22186600	Weak transcription	GM12878-XiMat	blood
9	chr7:22162200-22198000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:22163000-22187800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:22163000-22190600	Strong transcription	Fetal Thymus	thymus
12	chr7:22163200-22181000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:22163200-22186800	Weak transcription	Right Atrium	heart
14	chr7:22165400-22183400	Weak transcription	Primary B cells from cord blood	blood
15	chr7:22168000-22195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:22168000-22195800	Weak transcription	NHEK	skin
17	chr7:22169400-22186600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:22169800-22180600	Weak transcription	Fetal Kidney	kidney
19	chr7:22169800-22181000	Weak transcription	Right Ventricle	heart
20	chr7:22172200-22182200	Strong transcription	Fetal Intestine Large	intestine
21	chr7:22174400-22186400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:22174400-22190400	Strong transcription	HepG2	liver
23	chr7:22175200-22181200	Weak transcription	Placenta	Placenta
24	chr7:22175200-22193600	Weak transcription	HUVEC	blood vessel
25	chr7:22176000-22182200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:22176200-22185600	Genic enhancers	Brain Hippocampus Middle	brain
27	chr7:22176200-22198200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:22176400-22185600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr7:22176400-22186800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:22176400-22203200	Weak transcription	Stomach Mucosa	stomach
31	chr7:22176600-22183600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:22176600-22184600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr7:22176800-22184800	Genic enhancers	Brain Inferior Temporal Lobe	brain
34	chr7:22177000-22182800	Strong transcription	Thymus	Thymus
35	chr7:22177400-22186600	Weak transcription	Ovary	ovary
36	chr7:22177600-22181000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:22177600-22181400	Strong transcription	Fetal Intestine Small	intestine
38	chr7:22177600-22181800	Strong transcription	Spleen	Spleen
39	chr7:22177600-22183400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:22177800-22181000	Weak transcription	NH-A	brain
41	chr7:22177800-22181800	Strong transcription	Esophagus	oesophagus
42	chr7:22177800-22185400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr7:22177800-22195800	Weak transcription	HMEC	breast
44	chr7:22178000-22180400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:22178000-22182400	Enhancers	HSMMtube	muscle
46	chr7:22178200-22181200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr7:22178400-22180600	Weak transcription	HSMM	muscle
48	chr7:22178800-22181400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:22179000-22181200	Strong transcription	Brain Anterior Caudate	brain
50	chr7:22179000-22181600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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