Variant report

Variant	rs55675451
Chromosome Location	chr7:129493776-129493777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129493067..129496024-chr7:129500943..129503078,3	K562	blood:
2	chr7:129493067..129496024-chr7:129500943..129503078,2	K562	blood:
3	chr7:129492612..129494692-chr7:129591072..129592923,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186591	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs12530557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12531622	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12531936	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532959	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533033	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533290	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12533528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533953	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12534043	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534320	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535347	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12535722	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535728	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12536424	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537576	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537604	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537660	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12538787	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539145	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12539800	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12540517	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540541	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12690	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464970	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1464971	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1464972	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1471874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471877	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17559301	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965567	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1965568	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2631601	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2727457	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34930431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35189138	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55732825	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55735840	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55748031	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55767113	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55769831	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55772531	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55798026	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55809128	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56022754	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56025626	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56034137	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56080853	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56085705	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094908	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56117230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56153730	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56167610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56176516	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56191413	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56321762	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56332361	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56376893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381627	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56408895	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs718925	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718926	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7639	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129475000-129534800	Weak transcription	Colonic Mucosa	Colon
2	chr7:129477800-129495400	Weak transcription	HepG2	liver
3	chr7:129477800-129498400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:129479200-129495600	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:129479400-129543600	Weak transcription	Thymus	Thymus
6	chr7:129481400-129499800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:129481400-129510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:129484000-129497000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:129484200-129495400	Weak transcription	Fetal Stomach	stomach
10	chr7:129484200-129498600	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:129484200-129503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:129485400-129498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:129485400-129503800	Weak transcription	Lung	lung
14	chr7:129485600-129495400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:129485600-129495400	Weak transcription	Fetal Thymus	thymus
16	chr7:129485600-129496000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:129485600-129502400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:129486000-129493800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr7:129486000-129495800	Weak transcription	GM12878-XiMat	blood
20	chr7:129486400-129502400	Weak transcription	Esophagus	oesophagus
21	chr7:129486400-129505400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:129486600-129493800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr7:129486600-129501400	Weak transcription	Right Ventricle	heart
24	chr7:129486800-129499200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:129487200-129502400	Weak transcription	Ovary	ovary
26	chr7:129487800-129495600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr7:129488200-129499600	Weak transcription	Left Ventricle	heart
28	chr7:129488600-129496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:129488600-129496400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:129490600-129495800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr7:129490800-129496000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr7:129491400-129494600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:129491600-129510000	Weak transcription	Fetal Intestine Large	intestine
34	chr7:129491800-129494000	Enhancers	K562	blood
35	chr7:129491800-129495200	Weak transcription	Brain Anterior Caudate	brain
36	chr7:129491800-129502000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:129492000-129497000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:129492000-129498800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:129492000-129499400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:129492000-129501200	Weak transcription	Stomach Mucosa	stomach
41	chr7:129492000-129509200	Weak transcription	Fetal Intestine Small	intestine
42	chr7:129492200-129496800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:129492200-129499200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:129492200-129501800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:129492200-129502400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:129492400-129493800	Enhancers	Pancreas	Pancrea
47	chr7:129492400-129494000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:129492600-129494000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:129492600-129495800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:129492600-129502400	Weak transcription	H9 Cell Line	embryonic stem cell

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