Variant report

Variant	rs2007290
Chromosome Location	chr6:36785098-36785099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36773345..36779007-chr6:36781700..36788311,6	K562	blood:
2	chr6:36773345..36776524-chr6:36783780..36787443,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1007956	0.83[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11751790	1.00[YRI][hapmap]
rs11751844	0.84[CEU][hapmap];0.85[GIH][hapmap];1.00[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap]
rs11756425	1.00[YRI][hapmap]
rs11758807	0.84[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap]
rs2071822	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2071823	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2293381	1.00[YRI][hapmap]
rs236381	1.00[CEU][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28656041	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3176344	1.00[YRI][hapmap]
rs3213536	1.00[YRI][hapmap]
rs4711470	1.00[YRI][hapmap]
rs4714015	0.84[CEU][hapmap];1.00[YRI][hapmap]
rs62406628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62406629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72856461	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745099	0.84[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9296197	0.95[CHD][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs9368961	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9368963	0.84[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap]
rs9368965	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs9380603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380607	0.85[GIH][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap]
rs9380614	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs9394387	0.84[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][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	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv5261	chr6:36754545-36798824	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36762600-36789600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:36774000-36785200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:36774200-36788600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:36777000-36797800	Weak transcription	Pancreas	Pancrea
5	chr6:36779000-36788000	Weak transcription	HUVEC	blood vessel
6	chr6:36779000-36789200	Weak transcription	Left Ventricle	heart
7	chr6:36779000-36789400	Weak transcription	Fetal Stomach	stomach
8	chr6:36779000-36794000	Weak transcription	Brain Germinal Matrix	brain
9	chr6:36779200-36787200	Weak transcription	Brain Anterior Caudate	brain
10	chr6:36779200-36787600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:36779200-36789400	Weak transcription	Right Ventricle	heart
12	chr6:36779400-36787400	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:36779400-36797600	Weak transcription	Fetal Brain Female	brain
14	chr6:36781000-36785400	Weak transcription	K562	blood
15	chr6:36781000-36787400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:36781400-36789000	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:36781600-36794200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:36783400-36787600	Bivalent Enhancer	HepG2	liver
19	chr6:36783800-36785400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:36784000-36785400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:36784400-36786000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:36784400-36788400	Weak transcription	HMEC	breast

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