Variant report

Variant	rs57049631
Chromosome Location	chr7:128192895-128192896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10241185	0.87[AFR][1000 genomes]
rs10259359	0.92[AFR][1000 genomes]
rs11766319	0.92[AFR][1000 genomes]
rs12333625	0.83[AFR][1000 genomes]
rs13224451	0.82[AFR][1000 genomes]
rs13224613	0.86[AFR][1000 genomes]
rs13224784	0.85[AFR][1000 genomes]
rs13226592	0.83[AFR][1000 genomes]
rs13235219	0.83[AFR][1000 genomes]
rs13246302	0.89[AFR][1000 genomes]
rs13247746	0.87[AFR][1000 genomes]
rs28521711	0.82[AFR][1000 genomes]
rs34089553	0.95[EUR][1000 genomes]
rs34120723	0.80[AFR][1000 genomes]
rs34204464	0.85[EUR][1000 genomes]
rs35336068	1.00[AMR][1000 genomes]
rs35468072	0.85[EUR][1000 genomes]
rs4338038	0.82[AFR][1000 genomes]
rs6467181	0.92[AFR][1000 genomes]
rs6954329	1.00[AMR][1000 genomes]
rs6963982	0.93[AFR][1000 genomes]
rs6967393	0.86[AFR][1000 genomes]
rs71578277	0.85[EUR][1000 genomes]
rs71578278	0.81[EUR][1000 genomes]
rs71578283	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7777625	0.90[AFR][1000 genomes]
rs7787154	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7798023	0.90[EUR][1000 genomes]
rs7801053	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7801678	0.83[AFR][1000 genomes]
rs7811484	1.00[AMR][1000 genomes]
rs9768808	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1848097	chr7:128179503-128248497	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128172600-128193400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:128172600-128210800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:128172600-128214800	Weak transcription	Gastric	stomach
4	chr7:128172800-128239800	Weak transcription	Small Intestine	intestine
5	chr7:128173000-128231800	Weak transcription	Colonic Mucosa	Colon
6	chr7:128173000-128231800	Weak transcription	Fetal Kidney	kidney
7	chr7:128173600-128201000	Weak transcription	Psoas Muscle	Psoas
8	chr7:128173600-128214800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:128173800-128197800	Weak transcription	Right Atrium	heart
10	chr7:128173800-128199800	Weak transcription	Right Ventricle	heart
11	chr7:128173800-128201000	Weak transcription	Brain Germinal Matrix	brain
12	chr7:128173800-128214800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:128173800-128234400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:128174000-128210600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:128174000-128220600	Weak transcription	NHLF	lung
16	chr7:128174000-128231800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:128174000-128232600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:128174600-128193600	Strong transcription	Fetal Stomach	stomach
19	chr7:128175400-128231800	Weak transcription	Left Ventricle	heart
20	chr7:128175800-128193600	Strong transcription	Fetal Intestine Small	intestine
21	chr7:128176000-128214800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:128177600-128231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:128179200-128231800	Weak transcription	Esophagus	oesophagus
24	chr7:128181800-128231800	Weak transcription	Aorta	Aorta
25	chr7:128183000-128201000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:128183000-128214200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:128183400-128214800	Weak transcription	HUVEC	blood vessel
28	chr7:128183600-128196200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:128183600-128214800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:128185000-128210600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:128185200-128210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:128185600-128194800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr7:128187400-128212400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:128187400-128214800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:128187400-128214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:128187600-128196200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr7:128187600-128199000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr7:128187600-128200200	Weak transcription	A549	lung
39	chr7:128187600-128205200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:128187600-128213800	Weak transcription	Osteobl	bone
41	chr7:128187600-128214400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:128187600-128232000	Weak transcription	NH-A	brain
43	chr7:128187800-128214800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:128188000-128199000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr7:128188000-128200400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:128188000-128208800	Weak transcription	K562	blood
47	chr7:128188000-128210800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:128188000-128213800	Weak transcription	Brain Anterior Caudate	brain
49	chr7:128188000-128213800	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:128188000-128214800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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