Variant report

Variant	rs2623261
Chromosome Location	chr17:9960939-9960940
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	chr17:9960300..9963290-chr17:9963688..9966776,3	K562	blood:
2	chr17:9960300..9963290-chr17:9963688..9966383,3	K562	blood:

Variant related genes	Relation type
ENSG00000007237	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10519325	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10519326	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12438469	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1426085	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1426086	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17649255	0.80[ASN][1000 genomes]
rs17649391	0.80[ASN][1000 genomes]
rs17705889	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17706076	0.82[ASN][1000 genomes]
rs2162224	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2263946	0.95[AMR][1000 genomes]
rs2436664	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2554309	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2554310	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2554311	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2554317	0.82[AMR][1000 genomes]
rs2554321	0.80[AMR][1000 genomes]
rs2554323	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2554325	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2554326	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2554330	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2554333	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2554341	0.80[AMR][1000 genomes]
rs2554351	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2554352	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2554356	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2570218	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2570219	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2570220	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2570221	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2570225	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2570227	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2570232	0.80[AMR][1000 genomes]
rs2570234	0.80[ASN][1000 genomes]
rs2570242	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2570244	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2570245	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2570246	0.87[AMR][1000 genomes]
rs2570247	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2570249	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2570250	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2570256	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2570257	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2570259	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2570261	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2570262	0.80[AMR][1000 genomes]
rs2570267	0.87[AMR][1000 genomes]
rs2570270	0.87[AMR][1000 genomes]
rs2570273	0.87[AMR][1000 genomes]
rs2570274	0.82[AMR][1000 genomes]
rs2593165	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2593175	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2593176	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2593180	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2623246	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2623248	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2623250	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2623252	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2623253	0.80[ASN][1000 genomes]
rs2623257	0.87[AMR][1000 genomes]
rs2623260	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2623264	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2623267	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2623268	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2623269	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2623277	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2623278	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2623287	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2623293	0.80[AMR][1000 genomes]
rs2916174	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2959303	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34407523	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4775987	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73411105	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs74013606	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs919056	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs919057	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs990666	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833362	chr17:9800349-9996897	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv833363	chr17:9804348-9963979	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1064424	chr17:9812406-10171566	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061466	chr17:9906891-10245864	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv833364	chr17:9924848-10094566	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1062076	chr17:9940898-10402313	Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv543201	chr17:9940898-10402313	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:9954000-9962400	Weak transcription	Colonic Mucosa	Colon
2	chr17:9954400-9962000	Weak transcription	Left Ventricle	heart
3	chr17:9954400-9963400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:9955000-9962000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:9955200-9962600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr17:9955400-9964600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr17:9955800-9962000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr17:9956800-9961800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr17:9957000-9961600	Weak transcription	Primary B cells from cord blood	blood
10	chr17:9957000-9961600	Weak transcription	GM12878-XiMat	blood
11	chr17:9957200-9961800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:9957400-9962000	Weak transcription	Brain Angular Gyrus	brain
13	chr17:9957400-9962800	Weak transcription	Brain Germinal Matrix	brain
14	chr17:9957400-9963800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:9957400-9964200	Weak transcription	Fetal Intestine Small	intestine
16	chr17:9957800-9962200	Weak transcription	Fetal Lung	lung
17	chr17:9957800-9962800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr17:9957800-9966200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr17:9958000-9962400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr17:9958200-9962400	Weak transcription	Fetal Thymus	thymus
21	chr17:9958200-9964400	Weak transcription	Brain Substantia Nigra	brain
22	chr17:9958400-9961600	Weak transcription	Fetal Brain Male	brain
23	chr17:9958400-9962000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr17:9958400-9962600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr17:9958600-9961800	Weak transcription	Brain Hippocampus Middle	brain
26	chr17:9958600-9962000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:9958600-9963400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:9958600-9967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:9958800-9961800	Weak transcription	Brain Anterior Caudate	brain
30	chr17:9958800-9962000	Weak transcription	Spleen	Spleen
31	chr17:9958800-9962400	Weak transcription	Right Atrium	heart
32	chr17:9958800-9962400	Weak transcription	Right Ventricle	heart
33	chr17:9958800-9962400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr17:9958800-9962800	Weak transcription	Esophagus	oesophagus
35	chr17:9958800-9963000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:9958800-9966200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:9958800-9966400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:9959000-9961800	Weak transcription	Adipose Nuclei	Adipose
39	chr17:9959000-9962200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr17:9959000-9962400	Weak transcription	Colon Smooth Muscle	Colon
41	chr17:9959000-9962600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr17:9959200-9961600	Weak transcription	Fetal Muscle Leg	muscle
43	chr17:9959200-9962000	Weak transcription	Fetal Stomach	stomach
44	chr17:9959800-9961800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:9959800-9966200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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