Variant report

Variant	rs10840610
Chromosome Location	chr12:122043132-122043133
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	chr12:122042942..122044677-chr12:122046777..122049393,2	K562	blood:
2	chr12:122018621..122020135-chr12:122041419..122043221,2	K562	blood:

Variant related genes	Relation type
ENSG00000089094	Chromatin interaction
ENSG00000256742	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10770183	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10840650	0.91[AFR][1000 genomes]
rs10840651	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043181	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11043296	0.91[AFR][1000 genomes]
rs11043308	0.91[AFR][1000 genomes]
rs11614109	0.91[AFR][1000 genomes]
rs12304179	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12305333	0.82[AMR][1000 genomes]
rs12315280	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12319633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28435255	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28489288	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28552516	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594507	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7484839	0.91[AFR][1000 genomes]
rs7485243	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122028600-122048000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:122028600-122048400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:122028800-122048400	Weak transcription	Brain Angular Gyrus	brain
4	chr12:122028800-122049000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:122028800-122064000	Weak transcription	Right Atrium	heart
6	chr12:122029200-122049800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:122033200-122049600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:122033800-122049600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:122034000-122046400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:122034000-122048400	Weak transcription	Brain Anterior Caudate	brain
11	chr12:122034600-122048400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:122035000-122048000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:122035000-122048200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:122036400-122048000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:122037200-122047400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:122038600-122048000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:122039000-122048000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:122039200-122048400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:122039600-122047600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:122040600-122048000	Weak transcription	Colonic Mucosa	Colon
21	chr12:122041200-122046600	Weak transcription	Fetal Intestine Large	intestine

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