Variant report

Variant	rs7316910
Chromosome Location	chr12:22201667-22201668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:22201346..22203294-chr12:22211554..22213223,2	K562	blood:
2	chr12:22201346..22204337-chr12:22211554..22214294,3	K562	blood:
3	chr12:22199607..22203065-chr12:22209223..22212376,4	MCF-7	breast:
4	chr12:22168668..22170617-chr12:22199728..22202594,2	K562	blood:
5	chr12:22197898..22202531-chr12:22202616..22208309,9	MCF-7	breast:
6	chr12:22199280..22201713-chr12:22218617..22220760,2	MCF-7	breast:
7	chr12:21810040..21811598-chr12:22199796..22202125,2	K562	blood:

Variant related genes	Relation type
ENSG00000111716	Chromatin interaction
ENSG00000111726	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11835804	1.00[AMR][1000 genomes]
rs11837393	1.00[AMR][1000 genomes]
rs1352908	1.00[AMR][1000 genomes]
rs59163540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252003	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73256030	1.00[AMR][1000 genomes]
rs73268262	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7956186	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7978067	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv438196	chr12:22195202-22234058	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv1850259	chr12:22198865-22244741	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22199200-22201800	Active TSS	GM12878-XiMat	blood
2	chr12:22200000-22203000	Weak transcription	Esophagus	oesophagus
3	chr12:22200000-22203000	Weak transcription	Pancreas	Pancrea
4	chr12:22200000-22203000	Weak transcription	Small Intestine	intestine
5	chr12:22200000-22203200	Weak transcription	Gastric	stomach
6	chr12:22200000-22208400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:22200000-22209400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:22200000-22209400	Weak transcription	Spleen	Spleen
9	chr12:22200000-22214400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:22200000-22218200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:22200000-22220200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:22200000-22220200	Weak transcription	Lung	lung
13	chr12:22200200-22201800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr12:22200200-22201800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:22200200-22202000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr12:22200200-22202000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:22200200-22202000	Enhancers	Colon Smooth Muscle	Colon
18	chr12:22200200-22202000	Enhancers	Psoas Muscle	Psoas
19	chr12:22200200-22202400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:22200200-22203000	Weak transcription	Ovary	ovary
21	chr12:22200200-22203000	Weak transcription	Stomach Mucosa	stomach
22	chr12:22200200-22203400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:22200200-22203600	Weak transcription	Thymus	Thymus
24	chr12:22200200-22208200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:22200200-22208400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:22200200-22208600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:22200200-22208800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:22200200-22209000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:22200200-22209000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:22200200-22209200	Weak transcription	Primary B cells from cord blood	blood
31	chr12:22200200-22209200	Weak transcription	Right Ventricle	heart
32	chr12:22200200-22209200	Weak transcription	HSMM	muscle
33	chr12:22200200-22209400	Weak transcription	Left Ventricle	heart
34	chr12:22200200-22209400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:22200200-22215200	Weak transcription	HSMMtube	muscle
36	chr12:22200200-22215800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:22200200-22219600	Weak transcription	Aorta	Aorta
38	chr12:22200400-22201800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:22200400-22201800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:22200400-22201800	Enhancers	HepG2	liver
41	chr12:22200400-22202000	Enhancers	Brain Anterior Caudate	brain
42	chr12:22200400-22202000	Enhancers	Fetal Brain Male	brain
43	chr12:22200400-22202200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr12:22200400-22202200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:22200400-22202400	Enhancers	Brain Cingulate Gyrus	brain
46	chr12:22200400-22202800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:22200400-22208400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:22200400-22208600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr12:22200400-22209200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:22200400-22216600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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