Variant report

Variant	rs2144387
Chromosome Location	chr22:31932212-31932213
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
2	22:31864703-31891033..22:31930706-31935473	GM12878	blood:

Variant related genes	Relation type
ENSG00000184708	Chromatin interaction
ENSG00000199248	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2413056	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753683	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997959	0.80[CEU][hapmap]
rs7290502	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:101 , 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	chr22:31893600-31934800	Weak transcription	Pancreas	Pancrea
4	chr22:31893600-31946600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
6	chr22:31893800-31934800	Weak transcription	HMEC	breast
7	chr22:31893800-31945600	Weak transcription	Brain Anterior Caudate	brain
8	chr22:31894000-31946600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr22:31894000-31946600	Weak transcription	Fetal Brain Female	brain
10	chr22:31898000-31934800	Weak transcription	Spleen	Spleen
11	chr22:31900800-31940800	Weak transcription	NHEK	skin
12	chr22:31903400-31934400	Weak transcription	Hela-S3	cervix
13	chr22:31904400-31944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr22:31905200-31957200	Weak transcription	A549	lung
15	chr22:31905600-31946200	Weak transcription	Esophagus	oesophagus
16	chr22:31907400-31946400	Weak transcription	Brain Germinal Matrix	brain
17	chr22:31907400-31946600	Weak transcription	Left Ventricle	heart
18	chr22:31907600-31946200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr22:31907800-31934400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:31907800-31942800	Weak transcription	Fetal Intestine Large	intestine
21	chr22:31908200-31935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:31910200-31934800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:31911600-31934600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr22:31911800-31934800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr22:31911800-31946000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:31917800-31933000	Weak transcription	K562	blood
27	chr22:31918000-31940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:31920800-31933000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr22:31921800-31942800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:31923000-31945800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr22:31924000-31943600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr22:31925000-31934600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr22:31925000-31946200	Weak transcription	Adipose Nuclei	Adipose
34	chr22:31925200-31942000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:31925600-31933200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr22:31925600-31942800	Weak transcription	Lung	lung
37	chr22:31925800-31933000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr22:31925800-31934800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr22:31925800-31934800	Weak transcription	Gastric	stomach
40	chr22:31925800-31936800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr22:31925800-31936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:31925800-31957200	Weak transcription	Brain Angular Gyrus	brain
43	chr22:31926000-31940800	Weak transcription	Fetal Intestine Small	intestine
44	chr22:31926800-31946200	Weak transcription	Fetal Muscle Leg	muscle
45	chr22:31926800-31950200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr22:31927000-31934800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr22:31927000-31946200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr22:31927000-31946200	Weak transcription	Liver	Liver
49	chr22:31927000-31946400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr22:31927200-31936800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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