Variant report

Variant	rs34844752
Chromosome Location	chr7:127428565-127428566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127426661..127429547-chr7:127431448..127433989,3	K562	blood:
2	chr7:127427705..127429969-chr7:127443941..127445452,2	K562	blood:
3	chr7:127425728..127430973-chr7:127434300..127441103,9	K562	blood:
4	chr7:127422115..127423719-chr7:127427243..127429540,2	MCF-7	breast:
5	chr7:127416976..127420911-chr7:127427598..127431217,3	K562	blood:
6	chr7:127423131..127425989-chr7:127426509..127430202,4	K562	blood:
7	chr7:127423131..127425908-chr7:127427714..127430922,3	K562	blood:

No data

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10487494	0.82[ASN][1000 genomes]
rs10487496	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12536698	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13227138	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13235596	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13244426	0.82[ASN][1000 genomes]
rs13247976	0.82[ASN][1000 genomes]
rs17660187	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17662800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663644	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17718364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17730185	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17730294	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17733783	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2272374	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34188289	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34209480	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34250605	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34365152	0.82[ASN][1000 genomes]
rs34388330	0.82[ASN][1000 genomes]
rs34599926	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34874680	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34980225	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35120956	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35246122	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35307919	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35421080	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35521470	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35528098	0.82[ASN][1000 genomes]
rs35585856	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35602492	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35640048	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35872516	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36043097	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36046498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757762	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3757785	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779525	0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3808062	0.86[ASN][1000 genomes]
rs3808090	0.94[AMR][1000 genomes]
rs3808096	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808111	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808115	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58341788	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58451280	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481380	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481393	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62481453	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62483172	0.82[ASN][1000 genomes]
rs6948752	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs737242	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs746238	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788592	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7808161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811506	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
2	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
3	chr7:127395800-127437200	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:127401000-127447600	Weak transcription	Fetal Intestine Large	intestine
5	chr7:127401000-127447800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:127403800-127433400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:127407400-127439200	Weak transcription	Primary T cells from cord blood	blood
8	chr7:127407400-127447600	Weak transcription	Dnd41	blood
9	chr7:127407600-127428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:127409400-127430200	Weak transcription	Liver	Liver
11	chr7:127410200-127432800	Weak transcription	Psoas Muscle	Psoas
12	chr7:127411400-127437200	Weak transcription	Left Ventricle	heart
13	chr7:127419800-127435200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:127422400-127432400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:127422400-127445400	Weak transcription	Aorta	Aorta
16	chr7:127422800-127432200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:127423000-127429600	Weak transcription	Pancreas	Pancrea
18	chr7:127423000-127432200	Weak transcription	Lung	lung
19	chr7:127423000-127437200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:127423000-127437400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:127423000-127437800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:127423000-127437800	Weak transcription	Fetal Lung	lung
23	chr7:127423000-127449200	Weak transcription	Small Intestine	intestine
24	chr7:127423200-127429600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:127423200-127432600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:127423200-127437400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:127423200-127440000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:127423200-127447600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr7:127423400-127430000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:127423400-127430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:127423400-127430200	Weak transcription	NHEK	skin
32	chr7:127423400-127432400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:127423400-127432600	Weak transcription	Brain Substantia Nigra	brain
34	chr7:127423400-127433400	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:127423400-127449000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:127423600-127431400	Weak transcription	HMEC	breast
37	chr7:127423600-127433200	Weak transcription	GM12878-XiMat	blood
38	chr7:127423600-127437800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:127423600-127447400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:127423800-127431400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:127424400-127429000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:127424600-127431200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr7:127425000-127430000	Enhancers	Osteobl	bone
44	chr7:127425000-127430800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr7:127425400-127431200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:127425400-127432400	Weak transcription	Gastric	stomach
47	chr7:127425400-127433000	Weak transcription	Ovary	ovary
48	chr7:127425600-127428600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:127425800-127436400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:127426000-127430800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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