Variant report

Variant	rs6978524
Chromosome Location	chr7:138208482-138208483
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	chr7:138208149..138212186-chr7:138212617..138217057,4	K562	blood:
2	chr7:138205992..138209636-chr7:138210985..138213741,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10232771	0.80[ASN][1000 genomes]
rs10258706	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1030961	0.83[ASN][1000 genomes]
rs1116324	0.84[EUR][1000 genomes]
rs11976614	0.81[EUR][1000 genomes]
rs12112459	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12666310	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1659830	0.82[EUR][1000 genomes]
rs1673204	0.84[AMR][1000 genomes]
rs1673206	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1673207	0.88[EUR][1000 genomes]
rs17364560	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17461551	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2353354	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3757381	0.82[ASN][1000 genomes]
rs3778705	0.81[ASN][1000 genomes]
rs3807155	0.83[EUR][1000 genomes]
rs3807156	0.80[ASN][1000 genomes]
rs3807157	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55723768	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56092804	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57407834	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58562866	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62485261	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62485263	0.83[ASN][1000 genomes]
rs62485264	0.82[ASN][1000 genomes]
rs62487615	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62487616	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62487619	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6467780	0.83[ASN][1000 genomes]
rs6963539	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6970175	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6974877	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs728092	0.82[EUR][1000 genomes]
rs749546	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7795981	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs888609	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9791462	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs985299	0.82[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	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138177000-138212600	Weak transcription	Pancreas	Pancrea
2	chr7:138178600-138212200	Weak transcription	NHLF	lung
3	chr7:138186600-138210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:138188400-138209800	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr7:138188800-138210400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:138188800-138210600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:138190200-138212200	Weak transcription	HMEC	breast
8	chr7:138192000-138212200	Weak transcription	Stomach Mucosa	stomach
9	chr7:138194000-138212000	Weak transcription	NHDF-Ad	bronchial
10	chr7:138195200-138212200	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:138196800-138209400	Strong transcription	Dnd41	blood
12	chr7:138197000-138216000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:138197400-138208800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:138197400-138210600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:138197400-138212600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:138197600-138208600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:138197600-138209400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:138197600-138210400	Weak transcription	A549	lung
19	chr7:138197600-138211800	Weak transcription	Fetal Brain Male	brain
20	chr7:138197600-138212600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:138198000-138210800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:138198000-138212200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:138199200-138208600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:138199200-138212200	Weak transcription	Brain Anterior Caudate	brain
25	chr7:138199400-138210400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:138199400-138212400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:138199800-138209000	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:138200000-138210400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:138200200-138210400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:138200200-138210600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:138200400-138209400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:138201000-138208600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:138201200-138212200	Strong transcription	Liver	Liver
34	chr7:138201800-138210600	Weak transcription	Esophagus	oesophagus
35	chr7:138202200-138212200	Weak transcription	Small Intestine	intestine
36	chr7:138203600-138210200	Strong transcription	Fetal Lung	lung
37	chr7:138204200-138211600	Weak transcription	Fetal Heart	heart
38	chr7:138204400-138210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr7:138204400-138210600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:138204400-138210600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:138204400-138210600	Weak transcription	Brain Angular Gyrus	brain
42	chr7:138204400-138212000	Weak transcription	Brain Substantia Nigra	brain
43	chr7:138204400-138212200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:138204400-138212200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:138204400-138212400	Weak transcription	NHEK	skin
46	chr7:138204600-138216200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:138204800-138210600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:138204800-138210600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:138204800-138210600	Weak transcription	HSMM	muscle
50	chr7:138204800-138212200	Weak transcription	HUVEC	blood vessel

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