Variant report

Variant	rs5013971
Chromosome Location	chr6:25337296-25337297
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:25331246..25333492-chr6:25335317..25337907,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12192517	0.83[ASN][1000 genomes]
rs12193883	0.85[ASN][1000 genomes]
rs1569558	0.86[ASN][1000 genomes]
rs16890409	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34283429	0.86[ASN][1000 genomes]
rs4712910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4712911	0.91[ASN][1000 genomes]
rs4712918	0.81[ASN][1000 genomes]
rs9348673	0.83[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	nsv883485	chr6:25259137-25437986	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv883486	chr6:25260434-25422369	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv883487	chr6:25280119-25508868	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25321600-25341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:25327600-25337400	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:25328200-25338200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:25331800-25341800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:25332000-25337400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:25332000-25337800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:25332000-25342400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:25332000-25342600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:25332000-25342600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:25332000-25346800	Weak transcription	Ovary	ovary
11	chr6:25332200-25337600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:25332600-25339800	Weak transcription	Colonic Mucosa	Colon
13	chr6:25332800-25341200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:25333200-25343800	Enhancers	Fetal Intestine Small	intestine
15	chr6:25333400-25337600	Weak transcription	Brain Angular Gyrus	brain
16	chr6:25333400-25340800	Weak transcription	Aorta	Aorta
17	chr6:25333800-25346400	Weak transcription	Left Ventricle	heart
18	chr6:25334200-25341200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:25334400-25339400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:25334400-25342000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:25334600-25337400	Weak transcription	Brain Anterior Caudate	brain
22	chr6:25335200-25359800	Weak transcription	Thymus	Thymus
23	chr6:25335400-25337600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:25335400-25342600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:25335600-25337400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:25335600-25337400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:25335600-25339800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:25335600-25340800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:25335600-25340800	Enhancers	Duodenum Mucosa	Duodenum
30	chr6:25336000-25337400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:25336000-25337600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:25336200-25337400	Enhancers	NHEK	skin
33	chr6:25336200-25337600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:25336200-25341000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:25336400-25337800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:25336400-25338200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:25336400-25338200	Enhancers	Stomach Mucosa	stomach
38	chr6:25336400-25341200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:25336400-25342800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr6:25336600-25337800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:25336600-25338000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr6:25336600-25338400	Enhancers	Fetal Lung	lung
43	chr6:25336600-25340800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr6:25336600-25340800	Weak transcription	Gastric	stomach
45	chr6:25336800-25337800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:25336800-25339400	Weak transcription	Small Intestine	intestine
47	chr6:25336800-25339600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:25336800-25339800	Weak transcription	Esophagus	oesophagus
49	chr6:25336800-25339800	Weak transcription	Pancreas	Pancrea
50	chr6:25336800-25341000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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