Variant report

Variant	rs603129
Chromosome Location	chr11:68186669-68186670
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:68186432..68189427-chr11:68190382..68193146,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs23691	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs314750	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs314751	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3853616	0.87[EUR][1000 genomes]
rs471966	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs497261	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs525592	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs554734	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs556442	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs599083	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs599301	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs607887	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs608343	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs630225	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs638076	0.86[EUR][1000 genomes]
rs653056	0.86[EUR][1000 genomes]
rs683978	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs689075	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7950129	0.86[EUR][1000 genomes]
rs901823	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv897861	chr11:68129606-68196830	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv469965	chr11:68140781-68217420	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv468618	chr11:68171013-68231240	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv897863	chr11:68186392-68251460	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68148600-68196800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:68157200-68196600	Weak transcription	NH-A	brain
3	chr11:68167800-68196600	Weak transcription	Fetal Brain Male	brain
4	chr11:68168400-68189000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:68168600-68188800	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:68168600-68188800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:68168600-68193600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:68168600-68195600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:68169000-68193600	Strong transcription	Fetal Intestine Small	intestine
10	chr11:68169400-68196600	Weak transcription	Right Atrium	heart
11	chr11:68169600-68188200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:68169600-68196800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:68173000-68188400	Strong transcription	Dnd41	blood
14	chr11:68173400-68187400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:68173800-68189000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:68174400-68192800	Strong transcription	Fetal Intestine Large	intestine
17	chr11:68174400-68195800	Weak transcription	Primary B cells from cord blood	blood
18	chr11:68174600-68196800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:68175600-68196000	Strong transcription	Brain Germinal Matrix	brain
20	chr11:68176000-68210400	Strong transcription	HepG2	liver
21	chr11:68177400-68187800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:68178400-68197000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:68179800-68187600	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:68181200-68188400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:68181200-68192600	Weak transcription	Brain Anterior Caudate	brain
26	chr11:68181200-68194400	Strong transcription	Fetal Stomach	stomach
27	chr11:68181200-68196600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr11:68181400-68196800	Strong transcription	Gastric	stomach
29	chr11:68181800-68194200	Weak transcription	Fetal Kidney	kidney
30	chr11:68182000-68191200	Weak transcription	Stomach Mucosa	stomach
31	chr11:68182000-68196800	Strong transcription	Liver	Liver
32	chr11:68182000-68196800	Weak transcription	Brain Angular Gyrus	brain
33	chr11:68182000-68196800	Weak transcription	HMEC	breast
34	chr11:68182000-68204400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr11:68182400-68192600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:68182400-68196600	Strong transcription	Adipose Nuclei	Adipose
37	chr11:68182600-68188400	Strong transcription	Fetal Muscle Leg	muscle
38	chr11:68182600-68188800	Weak transcription	Placenta	Placenta
39	chr11:68182600-68192000	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:68182600-68192200	Weak transcription	Brain Substantia Nigra	brain
41	chr11:68182600-68193000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr11:68182600-68193000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:68182600-68196800	Weak transcription	NHLF	lung
44	chr11:68182800-68188400	Strong transcription	Fetal Thymus	thymus
45	chr11:68182800-68190400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:68182800-68192000	Weak transcription	Spleen	Spleen
47	chr11:68182800-68192200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:68182800-68193400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:68182800-68193400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:68182800-68196000	Strong transcription	Thymus	Thymus

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