Variant report

Variant	rs9321267
Chromosome Location	chr6:131322060-131322061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr6:131321671-131322686	HEK293	kidney:	n/a	n/a
2	KAP1	chr6:131321699-131322582	U2OS	brain:	n/a	n/a
3	MYC	chr6:131321842-131322753	K562	blood:	n/a	n/a

Variant related genes	Relation type
EPB41L2	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6569714	1.00[AFR][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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131314800-131322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:131314800-131325000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:131315800-131323200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:131315800-131325800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:131316800-131322200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:131317400-131322200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:131317600-131322200	Weak transcription	HMEC	breast
8	chr6:131317600-131322400	Weak transcription	Gastric	stomach
9	chr6:131317600-131323200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:131318200-131322200	Weak transcription	NHEK	skin
11	chr6:131318600-131322200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:131318800-131325800	Weak transcription	Fetal Thymus	thymus
13	chr6:131318800-131328000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:131318800-131329200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:131319000-131322200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:131319000-131322200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:131319000-131322200	Enhancers	Brain Hippocampus Middle	brain
18	chr6:131319000-131322200	Weak transcription	HSMM	muscle
19	chr6:131319000-131323200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:131319000-131323200	Weak transcription	Fetal Kidney	kidney
21	chr6:131319000-131323200	Weak transcription	NH-A	brain
22	chr6:131319000-131323200	Weak transcription	Osteobl	bone
23	chr6:131319000-131323400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:131319000-131323400	Weak transcription	A549	lung
25	chr6:131319000-131323400	Weak transcription	NHDF-Ad	bronchial
26	chr6:131319000-131324200	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:131319000-131324800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:131319000-131325000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:131319000-131325600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:131319200-131323200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:131319400-131322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:131319400-131324800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:131319600-131324800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr6:131319800-131323200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:131320400-131323200	Weak transcription	Left Ventricle	heart
36	chr6:131320400-131324600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:131320400-131325200	Weak transcription	Right Ventricle	heart
38	chr6:131321000-131322200	Enhancers	Brain Cingulate Gyrus	brain
39	chr6:131321000-131322200	Enhancers	Fetal Lung	lung
40	chr6:131321000-131322600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:131321000-131324000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr6:131321000-131326600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr6:131321400-131322200	Enhancers	Brain Substantia Nigra	brain
44	chr6:131321400-131322200	Enhancers	Duodenum Mucosa	Duodenum
45	chr6:131321400-131322600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:131321400-131323400	Enhancers	NHLF	lung
47	chr6:131321400-131323600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:131321400-131323600	Enhancers	Fetal Intestine Large	intestine
49	chr6:131321400-131323800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:131321400-131324000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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