Variant report

Variant	rs4846803
Chromosome Location	chr1:217202135-217202136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10863290	0.94[CEU][hapmap];0.87[LWK][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs11117755	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11581079	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12027628	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12031774	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12035277	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13374296	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1339212	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs2789573	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs2818752	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs2818760	0.81[JPT][hapmap]
rs2818761	0.85[CEU][hapmap]
rs2818763	0.84[CEU][hapmap];0.94[CHB][hapmap]
rs4846806	0.85[CHD][hapmap];0.83[JPT][hapmap]
rs7522101	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7527281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950581	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468149	chr1:217134966-217203091	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv549204	chr1:217134966-217203091	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1008670	chr1:217155114-217206765	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1012243	chr1:217157000-217206765	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1006155	chr1:217157000-217215465	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1004880	chr1:217157748-217206765	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1011212	chr1:217162443-217206765	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4846803	TAGLN	trans	brain	seeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217194800-217206200	Weak transcription	Left Ventricle	heart
2	chr1:217196000-217206200	Weak transcription	Right Atrium	heart
3	chr1:217196200-217206200	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:217198600-217203200	Weak transcription	Aorta	Aorta
5	chr1:217199200-217204800	Enhancers	Fetal Kidney	kidney
6	chr1:217199600-217202400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:217199600-217203800	Enhancers	Fetal Intestine Large	intestine
8	chr1:217199600-217206200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:217199600-217211800	Weak transcription	Gastric	stomach
10	chr1:217199800-217202800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:217199800-217203400	Enhancers	Fetal Intestine Small	intestine
12	chr1:217200000-217203600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:217200200-217203200	Weak transcription	Pancreas	Pancrea
14	chr1:217200400-217202400	Weak transcription	Stomach Mucosa	stomach
15	chr1:217200400-217202600	Weak transcription	Psoas Muscle	Psoas
16	chr1:217200400-217203000	Enhancers	Primary hematopoietic stem cells	blood
17	chr1:217200600-217204000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:217200800-217202200	Weak transcription	Small Intestine	intestine
19	chr1:217201000-217206000	Weak transcription	Fetal Heart	heart
20	chr1:217201200-217202200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:217201200-217202400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:217201400-217202400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:217201600-217203400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:217201800-217203000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:217201800-217203000	Weak transcription	Brain Anterior Caudate	brain
26	chr1:217201800-217204000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:217201800-217205600	Weak transcription	Brain Substantia Nigra	brain
28	chr1:217202000-217203800	Enhancers	HMEC	breast
29	chr1:217202000-217203800	Enhancers	NHEK	skin
30	chr1:217202000-217204200	Enhancers	Fetal Muscle Leg	muscle

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