Variant report

Variant	rs204228
Chromosome Location	chr6:13680776-13680777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13574510..13576795-chr6:13678124..13681559,3	K562	blood:
2	chr6:13572493..13576795-chr6:13677578..13681816,6	K562	blood:
3	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
4	chr6:13677099..13683232-chr6:13708060..13717356,16	K562	blood:
5	chr6:13612983..13618304-chr6:13679034..13683117,5	K562	blood:

Variant related genes	Relation type
ENSG00000225921	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000124523	Chromatin interaction

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

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

rs_ID	r²[population]
rs204226	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs204232	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715451	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019422	chr6:13622143-13694781	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1026597	chr6:13634669-13689882	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13620600-13691000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:13654600-13689800	Weak transcription	Osteobl	bone
3	chr6:13660800-13688000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:13665600-13695200	Weak transcription	NHLF	lung
5	chr6:13667600-13695800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:13668200-13694600	Weak transcription	NHDF-Ad	bronchial
7	chr6:13668600-13684200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:13668800-13694800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:13670000-13701600	Weak transcription	Esophagus	oesophagus
10	chr6:13670600-13680800	Weak transcription	Fetal Thymus	thymus
11	chr6:13672400-13688200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:13673000-13680800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:13673400-13695800	Weak transcription	Brain Angular Gyrus	brain
14	chr6:13675200-13680800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:13675200-13689600	Weak transcription	Aorta	Aorta
16	chr6:13675400-13681000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr6:13677400-13688800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:13677400-13693200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:13677600-13681000	Weak transcription	Primary T cells from cord blood	blood
20	chr6:13677800-13699200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:13678000-13681400	Strong transcription	Dnd41	blood
22	chr6:13678000-13687200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:13678200-13681400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:13678200-13681600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr6:13678200-13692400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:13678400-13681200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr6:13678400-13681600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:13678800-13681000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:13678800-13681400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:13678800-13681400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:13678800-13688800	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:13679000-13680800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:13679000-13680800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:13679000-13681000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:13679000-13686600	Weak transcription	Ovary	ovary
36	chr6:13679000-13686800	Weak transcription	Psoas Muscle	Psoas
37	chr6:13679000-13688200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:13679000-13688200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:13679000-13690000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:13679000-13690000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr6:13679000-13691000	Weak transcription	Left Ventricle	heart
42	chr6:13679000-13691600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr6:13679000-13692000	Weak transcription	Placenta	Placenta
44	chr6:13679000-13694800	Weak transcription	Small Intestine	intestine
45	chr6:13679000-13695600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr6:13679000-13695800	Weak transcription	Thymus	Thymus
47	chr6:13679000-13695800	Weak transcription	NHEK	skin
48	chr6:13679000-13699800	Weak transcription	Pancreas	Pancrea
49	chr6:13679000-13700400	Weak transcription	Right Ventricle	heart
50	chr6:13679000-13708400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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