Variant report

Variant	rs2192671
Chromosome Location	chr2:10327043-10327044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10325813..10328227-chr2:10329027..10331851,2	K562	blood:
2	chr2:10302901..10305330-chr2:10325922..10328605,2	K562	blood:
3	chr2:10325813..10327549-chr2:10329142..10331851,2	K562	blood:
4	chr2:10326584..10329033-chr2:10441051..10443274,2	MCF-7	breast:
5	chr2:10326687..10328532-chr2:10350704..10352850,2	K562	blood:

Variant related genes	Relation type
ENSG00000115756	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4669551	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6722368	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6728835	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873634	chr2:10275814-10337034	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv873635	chr2:10286466-10344465	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873636	chr2:10300390-10331919	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:10286400-10331400	Weak transcription	Spleen	Spleen
3	chr2:10290200-10351400	Strong transcription	Dnd41	blood
4	chr2:10302400-10337600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:10304400-10339800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:10311800-10331200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:10311800-10337000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:10313000-10344400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:10313200-10327400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:10314000-10340400	Weak transcription	HepG2	liver
11	chr2:10320600-10337200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:10320800-10332400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:10320800-10336800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:10321800-10333400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:10321800-10338000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:10325000-10328600	Weak transcription	Gastric	stomach
17	chr2:10325200-10328800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:10325400-10333000	Weak transcription	Fetal Lung	lung
19	chr2:10325600-10330000	Strong transcription	Fetal Thymus	thymus
20	chr2:10325600-10342800	Weak transcription	Fetal Brain Female	brain
21	chr2:10326000-10327200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:10326000-10327200	Weak transcription	Fetal Brain Male	brain
23	chr2:10326000-10327600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:10326000-10327600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:10326600-10327600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:10326600-10329800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:10326600-10339400	Strong transcription	Thymus	Thymus
28	chr2:10326800-10327400	Strong transcription	Fetal Intestine Small	intestine
29	chr2:10326800-10330000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:10327000-10327200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:10327000-10327600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:10327000-10328200	Enhancers	Brain Germinal Matrix	brain
33	chr2:10327000-10328400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:10327000-10328400	Enhancers	Fetal Muscle Leg	muscle

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