Variant report

Variant	rs2104531
Chromosome Location	chr14:39832275-39832276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10130008	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10137052	0.83[AMR][1000 genomes]
rs10137352	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10137905	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10148574	0.81[ASN][1000 genomes]
rs10148740	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10149352	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11157058	0.83[AMR][1000 genomes]
rs11624144	0.83[AMR][1000 genomes]
rs11626679	0.83[AMR][1000 genomes]
rs12880644	0.81[ASN][1000 genomes]
rs12882250	0.81[ASN][1000 genomes]
rs12883781	0.84[AMR][1000 genomes]
rs12886769	0.81[ASN][1000 genomes]
rs12887525	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12894855	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12897960	0.81[ASN][1000 genomes]
rs17109100	0.80[AMR][1000 genomes]
rs2274395	0.81[ASN][1000 genomes]
rs2274396	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34589600	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34894621	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34928332	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35115885	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35553183	0.81[ASN][1000 genomes]
rs35693868	0.81[ASN][1000 genomes]
rs35876588	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35904659	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36057593	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3814860	0.81[ASN][1000 genomes]
rs4899245	0.81[ASN][1000 genomes]
rs4902569	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902570	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4902598	0.80[ASN][1000 genomes]
rs4902599	0.81[ASN][1000 genomes]
rs56046902	0.81[ASN][1000 genomes]
rs56375627	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57781286	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6571926	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67439322	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67963654	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7144848	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7145821	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7148150	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7151835	0.83[AMR][1000 genomes]
rs7152341	0.81[ASN][1000 genomes]
rs8006321	0.81[ASN][1000 genomes]
rs8007252	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8014123	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][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	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
3	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
4	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
6	chr14:39797000-39837400	Weak transcription	Brain Substantia Nigra	brain
7	chr14:39802000-39835600	Weak transcription	Esophagus	oesophagus
8	chr14:39802000-39841200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:39802600-39835400	Weak transcription	Psoas Muscle	Psoas
10	chr14:39802800-39835400	Weak transcription	Gastric	stomach
11	chr14:39802800-39839400	Weak transcription	Aorta	Aorta
12	chr14:39803000-39835400	Weak transcription	Right Ventricle	heart
13	chr14:39803000-39845800	Weak transcription	NHEK	skin
14	chr14:39803200-39833000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:39803200-39838400	Weak transcription	Thymus	Thymus
16	chr14:39803200-39843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:39803200-39845800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:39803400-39843800	Weak transcription	HMEC	breast
19	chr14:39807400-39836000	Weak transcription	Brain Anterior Caudate	brain
20	chr14:39808400-39841200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:39809600-39832800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:39810000-39835200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:39812200-39845800	Weak transcription	Stomach Mucosa	stomach
24	chr14:39812400-39832800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:39812400-39833600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr14:39815600-39832800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:39816800-39836600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:39816800-39843200	Weak transcription	Hela-S3	cervix
29	chr14:39816800-39850200	Weak transcription	Fetal Kidney	kidney
30	chr14:39817200-39835400	Weak transcription	Fetal Stomach	stomach
31	chr14:39817400-39835400	Weak transcription	Left Ventricle	heart
32	chr14:39817400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:39817600-39833400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:39818200-39832600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:39818200-39833200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:39818200-39833600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:39818200-39837200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:39818200-39839400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:39818800-39845200	Weak transcription	Placenta	Placenta
40	chr14:39818800-39867200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr14:39819200-39833600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:39821600-39832800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:39822600-39833400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr14:39822800-39832800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:39823000-39832600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:39823000-39832800	Weak transcription	Primary B cells from cord blood	blood
47	chr14:39823000-39834400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr14:39823000-39834600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:39823000-39839200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr14:39826000-39843200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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