Variant report

Variant	rs352091
Chromosome Location	chr6:114242226-114242227
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114241819..114244769-chr6:114245908..114248652,2	K562	blood:
2	chr6:114200223..114202562-chr6:114240736..114243361,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCKS-1	chr6:114241620-114242806	XLOC_005438
2	lnc-MARCKS-1	chr6:114241620-114242806	ENSG00000175967.3

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17075707	0.94[ASN][1000 genomes]
rs2499617	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615524	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2810164	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2810165	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352097	1.00[JPT][hapmap]
rs4945990	1.00[CHB][hapmap]
rs531436	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538681	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551737	0.84[YRI][hapmap]
rs6568825	0.88[ASN][1000 genomes]
rs6924176	1.00[CHB][hapmap];1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv830779	chr6:114206534-114246099	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114226600-114246000	Weak transcription	Fetal Stomach	stomach
2	chr6:114240600-114243000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:114241400-114242400	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:114241600-114242400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr6:114241600-114242400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr6:114241600-114242400	Enhancers	Fetal Lung	lung
7	chr6:114241600-114242600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:114241600-114242800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr6:114241600-114242800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:114241800-114242400	Enhancers	Primary T cells from cord blood	blood
11	chr6:114241800-114242400	Enhancers	Dnd41	blood
12	chr6:114241800-114242600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:114241800-114242600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:114241800-114242800	Flanking Active TSS	K562	blood
15	chr6:114241800-114243000	Enhancers	HUVEC	blood vessel
16	chr6:114242000-114242400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:114242000-114242400	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:114242000-114242400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr6:114242000-114242400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr6:114242000-114242400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr6:114242000-114242400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:114242000-114242400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:114242000-114242400	Enhancers	Adipose Nuclei	Adipose
24	chr6:114242000-114242400	Enhancers	Duodenum Mucosa	Duodenum
25	chr6:114242000-114242400	Enhancers	Fetal Thymus	thymus
26	chr6:114242000-114242400	Enhancers	Ovary	ovary
27	chr6:114242000-114242400	Enhancers	Thymus	Thymus
28	chr6:114242000-114242400	Enhancers	Spleen	Spleen
29	chr6:114242000-114242400	Enhancers	GM12878-XiMat	blood
30	chr6:114242000-114242400	Flanking Active TSS	HepG2	liver
31	chr6:114242000-114242600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:114242000-114242600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:114242000-114242600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr6:114242000-114242800	Enhancers	Fetal Intestine Small	intestine
35	chr6:114242000-114242800	Enhancers	Left Ventricle	heart
36	chr6:114242000-114242800	Enhancers	Right Atrium	heart
37	chr6:114242000-114243000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:114242000-114243000	Enhancers	Fetal Muscle Leg	muscle

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