Variant report

Variant	rs57271230
Chromosome Location	chr15:74785359-74785360
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	chr15:74779286..74781733-chr15:74783756..74785927,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10459648	0.81[EUR][1000 genomes]
rs1078011	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10851871	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11072488	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11072489	0.94[AFR][1000 genomes]
rs11072490	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11072492	0.84[EUR][1000 genomes]
rs11852291	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11854226	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11854461	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11855521	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856543	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857328	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11857341	0.85[AFR][1000 genomes]
rs12439113	0.83[EUR][1000 genomes]
rs12439178	0.86[AMR][1000 genomes]
rs12439505	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12440645	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12440654	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12442013	0.82[EUR][1000 genomes]
rs12442097	0.83[EUR][1000 genomes]
rs12591603	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12592493	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592512	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12592906	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594447	0.82[EUR][1000 genomes]
rs12594766	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595017	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12909573	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16969247	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969393	0.86[ASN][1000 genomes]
rs16969612	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1821847	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1866113	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1866114	0.84[AFR][1000 genomes]
rs2012008	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2099593	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2289187	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289188	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2415241	0.81[EUR][1000 genomes]
rs2415242	0.83[EUR][1000 genomes]
rs2415243	0.82[AFR][1000 genomes]
rs28362902	0.83[AMR][1000 genomes]
rs2899826	0.81[AFR][1000 genomes]
rs35752918	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3985310	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4077703	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4261483	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4278699	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4324083	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4369610	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4372642	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4468560	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4544202	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886599	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4886601	0.81[EUR][1000 genomes]
rs4887147	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4887148	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4887149	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4887150	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4887151	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4887152	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4887153	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887154	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4887155	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4887159	0.81[EUR][1000 genomes]
rs4887160	0.80[EUR][1000 genomes]
rs4887162	0.81[EUR][1000 genomes]
rs4887163	0.81[EUR][1000 genomes]
rs55662551	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56367313	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369998	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59946128	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6495101	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6495102	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6495103	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495105	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495106	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6495108	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6495109	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6495115	0.80[EUR][1000 genomes]
rs7161990	0.83[AFR][1000 genomes]
rs7163775	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7166656	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7166701	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7167655	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7169985	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7171838	0.81[EUR][1000 genomes]
rs7173006	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7176095	0.81[EUR][1000 genomes]
rs7176491	0.84[ASN][1000 genomes]
rs7177140	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177407	0.83[EUR][1000 genomes]
rs7178219	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8023865	0.81[EUR][1000 genomes]
rs8025655	0.80[ASN][1000 genomes]
rs8026181	0.86[EUR][1000 genomes]
rs8026923	0.83[EUR][1000 genomes]
rs8027066	0.83[EUR][1000 genomes]
rs8028163	0.86[EUR][1000 genomes]
rs8028430	0.83[EUR][1000 genomes]
rs8029099	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8029116	0.86[EUR][1000 genomes]
rs8029215	0.81[EUR][1000 genomes]
rs8033841	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036030	0.80[ASN][1000 genomes]
rs8037211	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8037436	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8037714	0.81[EUR][1000 genomes]
rs8038730	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8039977	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8041030	0.86[EUR][1000 genomes]
rs8041807	0.83[EUR][1000 genomes]
rs8042323	0.80[AFR][1000 genomes]
rs8042832	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8043082	0.83[EUR][1000 genomes]
rs9635320	0.81[EUR][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	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1044797	chr15:74773661-74819852	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74754200-74798400	Weak transcription	Aorta	Aorta
2	chr15:74754400-74797600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:74754600-74789800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:74754600-74800000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:74755200-74789200	Weak transcription	NHEK	skin
6	chr15:74755200-74789800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:74755200-74790000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:74755400-74789400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:74760800-74785600	Weak transcription	Ovary	ovary
10	chr15:74761000-74802200	Weak transcription	Fetal Intestine Small	intestine
11	chr15:74762600-74807400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:74763600-74796400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:74765000-74800000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:74767600-74804800	Weak transcription	Lung	lung
15	chr15:74768200-74797200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:74769800-74800600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:74770000-74796600	Weak transcription	HepG2	liver
18	chr15:74770800-74791800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:74774000-74789200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:74774000-74798400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr15:74774000-74800000	Weak transcription	Pancreas	Pancrea
22	chr15:74774000-74803200	Weak transcription	Spleen	Spleen
23	chr15:74774000-74815200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr15:74774200-74789400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:74774200-74800200	Weak transcription	Gastric	stomach
26	chr15:74774400-74803200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr15:74774600-74803200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr15:74775800-74807000	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:74782000-74800400	Weak transcription	Adipose Nuclei	Adipose
30	chr15:74782200-74799600	Weak transcription	Placenta	Placenta
31	chr15:74782400-74811400	Weak transcription	Stomach Mucosa	stomach
32	chr15:74782600-74789600	Weak transcription	HSMM	muscle
33	chr15:74782600-74796200	Weak transcription	Hela-S3	cervix
34	chr15:74782800-74785400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:74782800-74785800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr15:74782800-74785800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:74782800-74787400	Weak transcription	Thymus	Thymus
38	chr15:74782800-74789400	Weak transcription	Primary T cells from cord blood	blood
39	chr15:74782800-74789800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr15:74782800-74791800	Weak transcription	K562	blood
41	chr15:74782800-74794400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:74782800-74794400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr15:74782800-74794400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr15:74782800-74794800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:74782800-74796600	Weak transcription	Primary B cells from cord blood	blood
46	chr15:74782800-74798400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:74782800-74798800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr15:74782800-74799000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:74782800-74799400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:74782800-74799600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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