Variant report

Variant	rs28524571
Chromosome Location	chr7:66405956-66405957
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:66405352-66405999	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:66405385-66406064	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66391302..66393822-chr7:66405825..66407426,2	K562	blood:
2	chr7:66403915..66405990-chr7:66414278..66417036,2	K562	blood:
3	chr7:66404078..66407158-chr7:66408723..66411794,4	K562	blood:
4	chr7:66384580..66387165-chr7:66405669..66409377,3	K562	blood:
5	chr7:66402042..66403954-chr7:66405152..66407138,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM248	TF binding region
ENSG00000106609	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10232188	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10234322	0.86[AFR][1000 genomes]
rs10235334	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10235423	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235638	0.84[AFR][1000 genomes]
rs10236124	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10237309	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10241528	0.86[AFR][1000 genomes]
rs10247591	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10250124	0.86[AFR][1000 genomes]
rs10250831	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10263993	0.81[AFR][1000 genomes]
rs10264223	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10264873	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10267922	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10269487	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10270138	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10275343	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10275956	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10279240	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10281794	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10479729	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12531365	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532805	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532829	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532843	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12533724	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12534188	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534948	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536003	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12537176	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537474	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12538038	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12540371	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1589887	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138017	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17680606	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2077180	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2091315	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293350	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28510688	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28590087	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28729561	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3778914	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778916	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382352	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4617036	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4717326	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56743740	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59765110	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61554495	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465677	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465679	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62465704	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62465717	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465731	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465735	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465746	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465749	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62465751	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465753	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62466579	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62466580	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73140000	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73143914	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73143998	0.86[AFR][1000 genomes]
rs7777631	0.86[AFR][1000 genomes]
rs7785755	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv436556	chr7:66403338-66410081	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387600-66407200	Weak transcription	NH-A	brain
2	chr7:66387600-66409800	Weak transcription	Fetal Kidney	kidney
3	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:66388200-66406800	Weak transcription	NHLF	lung
5	chr7:66388400-66406800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:66388400-66406800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:66388600-66406800	Weak transcription	NHDF-Ad	bronchial
8	chr7:66389000-66406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:66391200-66409800	Weak transcription	Brain Germinal Matrix	brain
10	chr7:66393000-66406600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:66393400-66411800	Weak transcription	Stomach Mucosa	stomach
12	chr7:66393800-66422200	Weak transcription	Fetal Heart	heart
13	chr7:66394200-66408000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:66395400-66406800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:66395400-66406800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:66395600-66407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:66395800-66406400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:66395800-66406800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:66395800-66406800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:66395800-66406800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:66395800-66408000	Weak transcription	Esophagus	oesophagus
22	chr7:66395800-66412800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:66396000-66406600	Weak transcription	Liver	Liver
24	chr7:66396000-66406600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:66396000-66406800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:66396000-66408200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:66396000-66409800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:66396000-66415800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:66396400-66406800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:66396800-66408000	Weak transcription	Small Intestine	intestine
31	chr7:66398400-66406400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:66398400-66406600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:66398400-66406800	Weak transcription	Placenta	Placenta
34	chr7:66398400-66406800	Weak transcription	Left Ventricle	heart
35	chr7:66398400-66410000	Weak transcription	Right Ventricle	heart
36	chr7:66398800-66406800	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:66398800-66406800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:66398800-66407800	Weak transcription	Psoas Muscle	Psoas
39	chr7:66398800-66409800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:66398800-66409800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:66398800-66410000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:66398800-66415400	Weak transcription	Brain Angular Gyrus	brain
43	chr7:66399000-66406200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:66399000-66406400	Weak transcription	HSMMtube	muscle
45	chr7:66399200-66409600	Weak transcription	Aorta	Aorta
46	chr7:66400000-66407400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:66400600-66426400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:66401600-66406400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:66401800-66406600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:66401800-66407000	Weak transcription	GM12878-XiMat	blood

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