Variant report

Variant	rs7747996
Chromosome Location	chr6:37905387-37905388
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	chr6:37891025..37896259-chr6:37902592..37905775,4	K562	blood:
2	chr6:37904858..37907835-chr6:37909386..37911345,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10428769	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10485030	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10498739	0.81[ASN][1000 genomes]
rs10498740	0.81[ASN][1000 genomes]
rs10947702	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10947704	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11751781	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11751927	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11751962	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11752521	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11752809	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11752814	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11752863	0.82[ASN][1000 genomes]
rs11753300	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11755095	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11755629	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11756713	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11757161	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11759458	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11759496	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11759826	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11967129	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11969988	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12660919	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12660922	0.81[ASN][1000 genomes]
rs12661378	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12661702	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12662305	0.81[ASN][1000 genomes]
rs12662426	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12664091	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12664768	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13190751	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13195545	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13205214	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13205311	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13206035	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16890185	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16890267	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16890301	0.89[ASN][1000 genomes]
rs2025431	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2103950	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2273441	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274091	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2395689	0.97[ASN][1000 genomes]
rs2645111	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2645125	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2645130	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2842510	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2842511	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2842512	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2842513	0.81[AFR][1000 genomes]
rs2842521	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34254045	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34450348	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35051126	0.96[ASN][1000 genomes]
rs35122358	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35216205	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35772972	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35849984	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3844314	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55679841	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56023538	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56129320	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57402213	0.81[ASN][1000 genomes]
rs58333612	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58611435	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59103990	0.81[ASN][1000 genomes]
rs61411293	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6458032	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6903743	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6906289	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6908106	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6910715	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6911716	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71569402	0.86[ASN][1000 genomes]
rs73419440	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73421436	0.82[ASN][1000 genomes]
rs73421439	0.82[ASN][1000 genomes]
rs7742226	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7745796	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7746266	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7748312	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7759145	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7759792	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7761561	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7764130	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7773419	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7775794	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37873400-37929200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:37880200-37930000	Weak transcription	Thymus	Thymus
3	chr6:37884800-37917000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr6:37885200-37906200	Weak transcription	HSMM	muscle
5	chr6:37887600-37933200	Weak transcription	NHDF-Ad	bronchial
6	chr6:37887800-37906200	Weak transcription	HSMMtube	muscle
7	chr6:37887800-37906600	Weak transcription	NH-A	brain
8	chr6:37889000-37906400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:37890800-37910400	Weak transcription	NHEK	skin
10	chr6:37892400-37907200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:37892600-37910800	Weak transcription	Primary B cells from cord blood	blood
12	chr6:37892600-37928800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:37893200-37910400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:37895200-37906600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:37895800-37908400	Weak transcription	Adipose Nuclei	Adipose
16	chr6:37896800-37907400	Weak transcription	Left Ventricle	heart
17	chr6:37896800-37929000	Weak transcription	Esophagus	oesophagus
18	chr6:37897000-37907600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:37897200-37908800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:37897200-37909000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:37897200-37909000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:37897200-37910600	Weak transcription	A549	lung
23	chr6:37897400-37908000	Weak transcription	Brain Anterior Caudate	brain
24	chr6:37898200-37913800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:37898600-37910400	Weak transcription	Fetal Kidney	kidney
26	chr6:37899000-37908000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:37899000-37908000	Weak transcription	Brain Substantia Nigra	brain
28	chr6:37899200-37906400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:37899200-37907000	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:37899200-37909000	Weak transcription	Fetal Intestine Large	intestine
31	chr6:37901000-37908800	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:37901000-37915400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:37901200-37906600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:37901200-37906800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:37901200-37908600	Weak transcription	Liver	Liver
36	chr6:37901400-37908400	Weak transcription	Fetal Lung	lung
37	chr6:37901600-37908000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:37901600-37909000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:37901800-37906000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:37902200-37905600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:37902200-37909200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:37902200-37910600	Weak transcription	NHLF	lung
43	chr6:37902200-37913600	Weak transcription	HepG2	liver
44	chr6:37902400-37905600	Weak transcription	Fetal Intestine Small	intestine
45	chr6:37902600-37906600	Weak transcription	Right Ventricle	heart
46	chr6:37903200-37905600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr6:37903200-37905800	Enhancers	Dnd41	blood
48	chr6:37903400-37906600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr6:37903400-37906800	Enhancers	Primary T cells from cord blood	blood
50	chr6:37903400-37911400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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