Variant report

Variant	rs11885703
Chromosome Location	chr2:54790772-54790773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54790164..54792599-chr2:54886849..54889331,2	K562	blood:
2	chr2:54789686..54792599-chr2:54886831..54888349,2	K562	blood:
3	chr2:54789909..54791873-chr2:54794483..54796038,2	MCF-7	breast:
4	chr2:54789266..54791330-chr2:54815899..54818560,2	K562	blood:
5	chr2:54790537..54793498-chr2:54814882..54817196,2	MCF-7	breast:
6	chr2:54789199..54791941-chr2:54810651..54814148,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10180713	0.83[EUR][1000 genomes]
rs1047499	0.82[EUR][1000 genomes]
rs11892788	0.84[EUR][1000 genomes]
rs12467581	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12468469	0.86[EUR][1000 genomes]
rs12713260	0.86[EUR][1000 genomes]
rs13016942	0.81[EUR][1000 genomes]
rs1541854	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17344072	0.81[EUR][1000 genomes]
rs1864493	0.80[EUR][1000 genomes]
rs2292356	0.82[EUR][1000 genomes]
rs2941586	0.82[EUR][1000 genomes]
rs2941587	0.82[EUR][1000 genomes]
rs2941595	0.84[EUR][1000 genomes]
rs2971877	0.82[EUR][1000 genomes]
rs2971879	0.82[EUR][1000 genomes]
rs2971887	0.82[EUR][1000 genomes]
rs3796014	0.83[EUR][1000 genomes]
rs4444573	0.85[EUR][1000 genomes]
rs4455199	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4519562	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671226	0.80[EUR][1000 genomes]
rs4671956	0.81[EUR][1000 genomes]
rs4671960	0.94[ASN][1000 genomes]
rs4671961	0.94[ASN][1000 genomes]
rs6545429	0.80[EUR][1000 genomes]
rs6545434	0.86[EUR][1000 genomes]
rs6706372	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6731661	0.85[EUR][1000 genomes]
rs6732949	0.85[EUR][1000 genomes]
rs6734658	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6735813	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6748816	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6761369	0.81[EUR][1000 genomes]
rs7598568	0.83[ASN][1000 genomes]
rs7607451	0.85[EUR][1000 genomes];0.88[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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54786400-54793200	Enhancers	Fetal Heart	heart
2	chr2:54787600-54791400	Enhancers	Left Ventricle	heart
3	chr2:54787600-54791400	Weak transcription	Right Ventricle	heart
4	chr2:54787600-54791400	Weak transcription	Spleen	Spleen
5	chr2:54787600-54796800	Weak transcription	Aorta	Aorta
6	chr2:54787600-54797000	Weak transcription	Gastric	stomach
7	chr2:54787800-54796200	Weak transcription	Esophagus	oesophagus
8	chr2:54787800-54797200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:54788000-54791000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:54788000-54791200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:54788000-54796000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:54788200-54795000	Weak transcription	Brain Anterior Caudate	brain
13	chr2:54788400-54791200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:54788400-54797600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:54788600-54791000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:54788600-54791200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:54788600-54791600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:54788600-54791600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:54788600-54791800	Enhancers	Stomach Mucosa	stomach
20	chr2:54788600-54792000	Enhancers	Fetal Thymus	thymus
21	chr2:54788600-54795200	Weak transcription	Placenta	Placenta
22	chr2:54788600-54796000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:54788600-54796200	Weak transcription	Colonic Mucosa	Colon
24	chr2:54788600-54796200	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:54788600-54796400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:54788600-54796800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:54788600-54796800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:54788800-54791200	Weak transcription	Fetal Kidney	kidney
29	chr2:54788800-54796000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:54789000-54790800	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr2:54789200-54790800	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:54789200-54796200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:54789400-54791400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:54789400-54791800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:54789400-54792000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:54789400-54792800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:54789400-54795800	Weak transcription	NHLF	lung
38	chr2:54789400-54796000	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:54789400-54796000	Weak transcription	HSMMtube	muscle
40	chr2:54789400-54796200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:54789400-54796200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:54789400-54796400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:54789600-54790800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr2:54789600-54791200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:54789600-54791200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr2:54789600-54791400	Weak transcription	K562	blood
47	chr2:54789600-54791600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:54789600-54792400	Weak transcription	HUVEC	blood vessel
49	chr2:54789600-54792800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr2:54789600-54795200	Weak transcription	Monocytes-CD14+_RO01746	blood

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