Variant report

Variant	rs6866295
Chromosome Location	chr5:177371215-177371216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10464066	0.81[ASN][1000 genomes]
rs10464113	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10464116	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11249783	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11738026	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13157329	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13157464	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13157845	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13167295	0.85[ASN][1000 genomes]
rs13190413	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4318803	0.83[ASN][1000 genomes]
rs4318804	0.84[ASN][1000 genomes]
rs4327608	0.88[ASN][1000 genomes]
rs4428434	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4958942	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4958944	0.85[ASN][1000 genomes]
rs4958945	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4958946	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4958947	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4958948	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4958982	0.87[ASN][1000 genomes]
rs4958983	0.85[ASN][1000 genomes]
rs4958984	0.85[ASN][1000 genomes]
rs4958995	0.88[ASN][1000 genomes]
rs4958999	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4959000	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62397830	0.88[ASN][1000 genomes]
rs62397831	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62397832	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6601187	0.85[ASN][1000 genomes]
rs6861547	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6864280	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6875636	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6880829	0.80[AMR][1000 genomes]
rs6881018	0.86[ASN][1000 genomes]
rs6885392	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6891157	0.81[ASN][1000 genomes]
rs6896989	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs71591890	0.84[ASN][1000 genomes]
rs7703493	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7705931	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7706237	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7706255	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7718261	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7730346	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7733233	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9764398	0.84[ASN][1000 genomes]
rs9765519	0.84[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	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
2	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv1033211	chr5:177133646-177383386	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv883184	chr5:177311043-177488281	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv883185	chr5:177357964-177401509	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv521629	chr5:177364884-177396200	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177366200-177371400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr5:177366200-177371400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:177366400-177378800	Weak transcription	Fetal Intestine Small	intestine
4	chr5:177366600-177371400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:177366800-177371400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:177366800-177371400	Weak transcription	Gastric	stomach
7	chr5:177366800-177371400	Weak transcription	Lung	lung
8	chr5:177367200-177371400	Weak transcription	NHDF-Ad	bronchial
9	chr5:177368200-177396400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:177370600-177371400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:177370600-177371800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:177370600-177372000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:177370600-177372000	Active TSS	Thymus	Thymus
14	chr5:177370600-177372800	Enhancers	Primary B cells from cord blood	blood
15	chr5:177370800-177371600	Enhancers	Liver	Liver
16	chr5:177370800-177371600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr5:177370800-177371800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr5:177370800-177371800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr5:177370800-177371800	Active TSS	Primary T cells from cord blood	blood
20	chr5:177370800-177371800	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr5:177370800-177371800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr5:177370800-177371800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:177370800-177371800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:177370800-177371800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:177370800-177371800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr5:177370800-177371800	Active TSS	Colonic Mucosa	Colon
27	chr5:177370800-177371800	Active TSS	Rectal Smooth Muscle	rectum
28	chr5:177370800-177371800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
29	chr5:177370800-177371800	Active TSS	HepG2	liver
30	chr5:177370800-177371800	Active TSS	HUVEC	blood vessel
31	chr5:177370800-177372000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr5:177370800-177373000	Weak transcription	GM12878-XiMat	blood
33	chr5:177371000-177371400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:177371000-177371400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:177371000-177371600	Active TSS	Primary T cells fromperipheralblood	blood
36	chr5:177371000-177371600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:177371000-177371600	Bivalent/Poised TSS	Dnd41	blood
38	chr5:177371000-177371800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr5:177371000-177371800	Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr5:177371000-177371800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:177371000-177371800	Active TSS	Esophagus	oesophagus
42	chr5:177371000-177371800	Active TSS	Fetal Thymus	thymus
43	chr5:177371000-177371800	Active TSS	Pancreas	Pancrea
44	chr5:177371000-177372000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr5:177371000-177381800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:177371000-177393000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:177371200-177371400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:177371200-177371400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
49	chr5:177371200-177371400	Active TSS	HMEC	breast
50	chr5:177371200-177371600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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