Variant report

Variant	rs12068789
Chromosome Location	chr1:98091004-98091005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11165902	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17116766	1.00[CEU][hapmap]
rs17116821	1.00[CEU][hapmap]
rs17116854	1.00[CEU][hapmap]
rs17116860	1.00[CEU][hapmap]
rs17117112	1.00[CEU][hapmap]
rs2068642	1.00[CEU][hapmap]
rs2786514	1.00[CEU][hapmap]
rs2786525	1.00[CEU][hapmap]
rs2786526	1.00[CEU][hapmap]
rs2786527	1.00[CEU][hapmap]
rs2786528	1.00[CEU][hapmap]
rs2786531	1.00[CEU][hapmap]
rs2786532	1.00[CEU][hapmap]
rs2786535	1.00[CEU][hapmap]
rs2786538	1.00[CEU][hapmap]
rs2786539	1.00[CEU][hapmap]
rs2811161	1.00[CEU][hapmap]
rs2811162	1.00[CEU][hapmap]
rs2811163	1.00[CEU][hapmap]
rs2811164	1.00[CEU][hapmap]
rs2811165	1.00[CEU][hapmap]
rs2811166	1.00[CEU][hapmap]
rs2811217	1.00[CEU][hapmap]
rs3120632	1.00[CEU][hapmap]
rs7522200	1.00[CEU][hapmap]
rs7535694	1.00[CEU][hapmap];0.83[MKK][hapmap]
rs7550523	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[AFR][1000 genomes];1.00[AMR][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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv530049	chr1:97883261-98384614	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830703	chr1:97907708-98101144	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv830714	chr1:98025090-98229416	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv546867	chr1:98084369-98111930	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98009800-98112200	Weak transcription	HSMM	muscle
2	chr1:98051800-98096000	Weak transcription	Left Ventricle	heart
3	chr1:98060800-98092400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:98063000-98111400	Weak transcription	Liver	Liver
5	chr1:98077400-98099400	Weak transcription	Primary B cells from cord blood	blood
6	chr1:98081800-98100600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:98083200-98099000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:98085200-98103400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:98086400-98094400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:98087400-98111400	Weak transcription	Dnd41	blood
11	chr1:98087800-98143600	Weak transcription	Ovary	ovary
12	chr1:98088800-98096000	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:98088800-98098200	Weak transcription	Small Intestine	intestine
14	chr1:98088800-98109600	Weak transcription	Psoas Muscle	Psoas
15	chr1:98089000-98094000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:98089000-98096000	Weak transcription	HUVEC	blood vessel
17	chr1:98089000-98096200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:98089000-98097600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:98090600-98091200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:98090600-98096600	Weak transcription	Brain Substantia Nigra	brain
21	chr1:98090800-98106000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:98091000-98091200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:98091000-98095600	Strong transcription	Monocytes-CD14+_RO01746	blood

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