Variant report

Variant	rs4696085
Chromosome Location	chr4:151218191-151218192
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10003215	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10004618	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10007367	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10007538	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10010611	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10018151	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10222778	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10471054	0.86[AMR][1000 genomes]
rs10520063	0.80[AMR][1000 genomes]
rs1080194	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12331959	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13136928	0.86[AMR][1000 genomes]
rs1546417	0.86[AMR][1000 genomes]
rs17631959	1.00[YRI][hapmap]
rs17632215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17688556	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17688594	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2054271	1.00[MKK][hapmap]
rs2055688	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2359928	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2359940	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs28885675	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4458434	0.80[AMR][1000 genomes]
rs4696647	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56145629	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57529227	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59545554	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6535732	0.82[CEU][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.82[AMR][1000 genomes]
rs6535733	0.86[AMR][1000 genomes]
rs6843645	0.81[AMR][1000 genomes]
rs7657948	0.82[AMR][1000 genomes]
rs7659675	0.82[AMR][1000 genomes]
rs7672419	0.87[AMR][1000 genomes]
rs7687678	0.82[AMR][1000 genomes]
rs7691809	0.82[AMR][1000 genomes]
rs7692491	1.00[CEU][hapmap];0.81[JPT][hapmap]

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	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv880257	chr4:151170387-151231371	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv880259	chr4:151210761-151367745	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv880260	chr4:151214038-151331191	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151191400-151245200	Weak transcription	Small Intestine	intestine
2	chr4:151192400-151232800	Weak transcription	Brain Substantia Nigra	brain
3	chr4:151202800-151223800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:151203600-151218400	Weak transcription	Fetal Stomach	stomach
5	chr4:151203800-151244400	Weak transcription	Fetal Thymus	thymus
6	chr4:151204000-151223800	Weak transcription	K562	blood
7	chr4:151204000-151244600	Weak transcription	Lung	lung
8	chr4:151204600-151236000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:151204600-151242200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:151205000-151236400	Weak transcription	Primary B cells from cord blood	blood
11	chr4:151205000-151272200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:151206600-151222800	Weak transcription	Osteobl	bone
13	chr4:151206800-151223800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:151206800-151223800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:151207200-151226600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:151207600-151241600	Weak transcription	Fetal Intestine Large	intestine
17	chr4:151208000-151230400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:151208600-151230400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr4:151210800-151231400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:151211200-151227000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:151211200-151236200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:151212000-151218400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:151213400-151219000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:151213400-151229000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr4:151213400-151242200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:151213600-151226600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:151213600-151231000	Weak transcription	Primary T cells from cord blood	blood
28	chr4:151213800-151222800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:151213800-151236200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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