Variant report

Variant	rs10861222
Chromosome Location	chr12:104870014-104870015
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104681309..104682923-chr12:104867248..104870196,2	K562	blood:
2	chr12:104849668..104855401-chr12:104869919..104879346,13	K562	blood:
3	chr12:104857257..104859525-chr12:104868712..104871497,3	K562	blood:
4	chr12:104869578..104872458-chr12:104877687..104880614,4	K562	blood:
5	chr12:104861083..104865275-chr12:104866418..104870159,5	K562	blood:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction
ENSG00000171310	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10861220	0.82[ASN][1000 genomes]
rs10861221	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861223	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861224	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112069	0.96[ASN][1000 genomes]
rs11112070	0.93[ASN][1000 genomes]
rs11112074	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315283	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1922262	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922263	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964809	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66839509	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7299352	0.89[ASN][1000 genomes]
rs7313791	0.89[ASN][1000 genomes]
rs7973993	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv868	chr12:104858964-104895572	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1042647	chr12:104861494-104888494	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3344884	chr12:104868347-104871195	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3441147	chr12:104868647-104870995	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3401829	chr12:104869072-104870620	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104853800-104870600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:104855400-104874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:104855400-104874800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:104857000-104873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:104857800-104871800	Weak transcription	Right Atrium	heart
6	chr12:104857800-104873600	Weak transcription	A549	lung
7	chr12:104859200-104879800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:104863400-104879200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:104865600-104874600	Weak transcription	HMEC	breast
10	chr12:104866600-104882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:104866800-104870800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:104867400-104871800	Weak transcription	Lung	lung
13	chr12:104867400-104872000	Weak transcription	NH-A	brain
14	chr12:104867400-104872200	Weak transcription	NHLF	lung
15	chr12:104867400-104874400	Weak transcription	Brain Germinal Matrix	brain
16	chr12:104867400-104874400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:104867600-104870600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:104867600-104870600	Weak transcription	Spleen	Spleen
19	chr12:104867600-104871200	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:104867600-104871400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:104867600-104871400	Weak transcription	HUVEC	blood vessel
22	chr12:104867600-104871800	Weak transcription	Placenta	Placenta
23	chr12:104867600-104871800	Weak transcription	Osteobl	bone
24	chr12:104867600-104872400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:104867600-104874400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:104867600-104876200	Weak transcription	Colonic Mucosa	Colon
27	chr12:104867600-104879400	Weak transcription	Brain Anterior Caudate	brain
28	chr12:104867600-104879600	Weak transcription	Fetal Brain Female	brain
29	chr12:104867800-104870200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr12:104867800-104870600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:104867800-104871600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr12:104867800-104871600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:104868200-104871400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:104868400-104870400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr12:104868400-104870800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:104868600-104871800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:104869000-104871800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:104869000-104872200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:104869200-104870200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:104869200-104870400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:104869200-104870400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr12:104869200-104870400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:104869200-104870400	Weak transcription	GM12878-XiMat	blood
44	chr12:104869200-104870600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:104869200-104871600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:104869200-104872400	Weak transcription	Stomach Mucosa	stomach
47	chr12:104869200-104872600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:104869200-104874400	Weak transcription	Fetal Stomach	stomach
49	chr12:104869200-104879400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:104869200-104899600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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