Variant report

Variant	rs4587238
Chromosome Location	chr7:39738884-39738885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39736933..39739214-chr7:39753535..39757472,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13228455	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17171612	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1859480	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57164715	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61070404	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6462942	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6967563	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6969272	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6973745	0.87[ASN][1000 genomes]
rs7776621	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7805581	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39701800-39739400	Weak transcription	Esophagus	oesophagus
2	chr7:39715200-39749400	Weak transcription	Aorta	Aorta
3	chr7:39718200-39739800	Weak transcription	Spleen	Spleen
4	chr7:39723600-39742800	Weak transcription	Brain Angular Gyrus	brain
5	chr7:39723800-39743000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:39724000-39739400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:39724200-39741200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:39724600-39739000	Weak transcription	Small Intestine	intestine
9	chr7:39726600-39742800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:39727400-39741600	Strong transcription	Fetal Muscle Leg	muscle
11	chr7:39727400-39747800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:39727600-39741200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr7:39728800-39739800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:39729000-39739400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:39729000-39742400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:39729400-39739000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:39729400-39740000	Weak transcription	Stomach Mucosa	stomach
18	chr7:39730000-39741600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr7:39730600-39749200	Weak transcription	Ovary	ovary
20	chr7:39731400-39740800	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr7:39732000-39739200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:39732000-39748000	Strong transcription	HUVEC	blood vessel
23	chr7:39732000-39749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:39732800-39741000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:39733000-39741600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:39733800-39739200	Weak transcription	Brain Germinal Matrix	brain
27	chr7:39734200-39739200	Weak transcription	Brain Substantia Nigra	brain
28	chr7:39734200-39746200	Weak transcription	Fetal Kidney	kidney
29	chr7:39734600-39743000	Strong transcription	HSMM	muscle
30	chr7:39735200-39739000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:39735200-39740400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:39735200-39741400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:39735400-39739000	Strong transcription	HMEC	breast
34	chr7:39735400-39739400	Weak transcription	Fetal Intestine Small	intestine
35	chr7:39735400-39740200	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:39735400-39740600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr7:39735600-39740800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:39735600-39740800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:39735600-39740800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr7:39735600-39740800	Strong transcription	NHLF	lung
41	chr7:39735600-39741200	Strong transcription	Fetal Intestine Large	intestine
42	chr7:39735600-39741200	Strong transcription	NH-A	brain
43	chr7:39735600-39741400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:39735600-39741600	Strong transcription	HSMMtube	muscle
45	chr7:39735600-39742000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:39735600-39742600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:39735600-39743200	Strong transcription	Primary B cells from cord blood	blood
48	chr7:39735600-39743400	Strong transcription	Primary T cells from cord blood	blood
49	chr7:39735800-39740200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:39735800-39740600	Strong transcription	H1 Cell Line	embryonic stem cell

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