Variant report

Variant	rs5998031
Chromosome Location	chr22:31926743-31926744
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	chr22:31926551..31928354-chr22:31935476..31937024,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10427704	0.93[EUR][1000 genomes]
rs11913573	1.00[ASN][1000 genomes]
rs11913621	1.00[ASN][1000 genomes]
rs12106594	1.00[ASN][1000 genomes]
rs35351984	1.00[ASN][1000 genomes]
rs41282571	0.84[EUR][1000 genomes]
rs55735011	0.84[EUR][1000 genomes]
rs7286320	1.00[ASN][1000 genomes]
rs7287648	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291131	1.00[ASN][1000 genomes]
rs7292627	1.00[ASN][1000 genomes]
rs7293134	0.81[EUR][1000 genomes]
rs8140312	0.91[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	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv1059314	chr22:31893613-31936088	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv914978	chr22:31897795-31942770	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	24 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	chr22:31893200-31934800	Weak transcription	Ovary	ovary
2	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:31893600-31928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:31893600-31934800	Weak transcription	Pancreas	Pancrea
5	chr22:31893600-31946600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
7	chr22:31893800-31927000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr22:31893800-31934800	Weak transcription	HMEC	breast
9	chr22:31893800-31945600	Weak transcription	Brain Anterior Caudate	brain
10	chr22:31894000-31946600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:31894000-31946600	Weak transcription	Fetal Brain Female	brain
12	chr22:31895400-31931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:31898000-31934800	Weak transcription	Spleen	Spleen
14	chr22:31900800-31940800	Weak transcription	NHEK	skin
15	chr22:31903400-31934400	Weak transcription	Hela-S3	cervix
16	chr22:31904400-31944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr22:31905200-31957200	Weak transcription	A549	lung
18	chr22:31905600-31928800	Weak transcription	Aorta	Aorta
19	chr22:31905600-31946200	Weak transcription	Esophagus	oesophagus
20	chr22:31907400-31946400	Weak transcription	Brain Germinal Matrix	brain
21	chr22:31907400-31946600	Weak transcription	Left Ventricle	heart
22	chr22:31907600-31946200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr22:31907800-31934400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:31907800-31942800	Weak transcription	Fetal Intestine Large	intestine
25	chr22:31908200-31935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr22:31910200-31934800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr22:31911600-31934600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr22:31911800-31934800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr22:31911800-31946000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:31917800-31933000	Weak transcription	K562	blood
31	chr22:31918000-31940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:31920400-31929400	Strong transcription	Fetal Thymus	thymus
33	chr22:31920400-31930000	Strong transcription	Primary T cells from cord blood	blood
34	chr22:31920800-31933000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr22:31921800-31942800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:31922200-31929800	Strong transcription	Dnd41	blood
37	chr22:31922800-31928000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr22:31923000-31928000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr22:31923000-31928600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr22:31923000-31929200	Strong transcription	GM12878-XiMat	blood
41	chr22:31923000-31945800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:31923400-31927600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr22:31923400-31930000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr22:31924000-31929000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:31924000-31943600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr22:31924200-31926800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr22:31924200-31929800	Strong transcription	Thymus	Thymus
48	chr22:31924400-31927400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:31924400-31927400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr22:31924400-31929200	Strong transcription	Primary B cells from cord blood	blood

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