Variant report

Variant	rs4641909
Chromosome Location	chr2:11504916-11504917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11503472..11505641-chr2:11513994..11516819,2	K562	blood:
2	chr2:11502724..11505633-chr2:11505790..11508071,2	K562	blood:
3	chr2:11485452..11487445-chr2:11503677..11505301,2	K562	blood:

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

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

rs_ID	r²[population]
rs10170598	0.98[ASN][1000 genomes]
rs10170791	0.95[ASN][1000 genomes]
rs10195908	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10202323	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10929734	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs12692438	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12692439	0.99[ASN][1000 genomes]
rs12692440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12692441	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs12993210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13024110	0.86[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35029584	0.99[ASN][1000 genomes]
rs4280434	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4533449	0.99[ASN][1000 genomes]
rs4668722	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4668723	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs6432189	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs6708718	0.99[ASN][1000 genomes]
rs6708945	0.98[ASN][1000 genomes]
rs6711409	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs6711414	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs6716724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6719739	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6721881	1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs6756145	0.97[ASN][1000 genomes]
rs7420679	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7581184	0.86[JPT][hapmap]
rs7595700	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11497600-11507400	Weak transcription	Fetal Brain Female	brain
2	chr2:11498200-11505200	Weak transcription	Spleen	Spleen
3	chr2:11498200-11505400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:11498200-11505400	Weak transcription	Liver	Liver
5	chr2:11498200-11505600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:11498200-11507400	Weak transcription	Small Intestine	intestine
7	chr2:11498200-11508000	Weak transcription	Right Atrium	heart
8	chr2:11498800-11505400	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:11498800-11505400	Weak transcription	Placenta	Placenta
10	chr2:11498800-11505600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:11500000-11505200	Weak transcription	Fetal Stomach	stomach
12	chr2:11500000-11505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:11500000-11505600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:11500000-11507600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:11500200-11505600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:11500200-11507600	Weak transcription	Brain Germinal Matrix	brain
17	chr2:11500400-11507400	Weak transcription	Fetal Lung	lung
18	chr2:11503200-11505600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:11503200-11508000	Weak transcription	Osteobl	bone
20	chr2:11503400-11505600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:11503400-11505600	Weak transcription	A549	lung
22	chr2:11503400-11507400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:11503400-11507800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:11503400-11508000	Weak transcription	Hela-S3	cervix
25	chr2:11504200-11505200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:11504200-11505400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:11504200-11505400	Weak transcription	Fetal Intestine Large	intestine
28	chr2:11504200-11505600	Weak transcription	Fetal Intestine Small	intestine
29	chr2:11504400-11505200	Bivalent/Poised TSS	HepG2	liver
30	chr2:11504400-11506000	Enhancers	Fetal Muscle Trunk	muscle
31	chr2:11504600-11508000	Weak transcription	Psoas Muscle	Psoas
32	chr2:11504800-11506000	Enhancers	K562	blood
33	chr2:11504800-11507600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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