Variant report

Variant	rs12207417
Chromosome Location	chr6:161663877-161663878
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161588978..161591951-chr6:161662641..161667563,4	K562	blood:
2	chr6:161663033..161665042-chr6:161695246..161697191,2	K562	blood:
3	chr6:161658815..161662379-chr6:161662479..161666320,5	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10945720	0.87[EUR][1000 genomes]
rs12190239	0.87[EUR][1000 genomes]
rs12197517	0.87[EUR][1000 genomes]
rs12207205	0.88[EUR][1000 genomes]
rs62437572	0.86[EUR][1000 genomes]
rs73019329	0.80[EUR][1000 genomes]
rs7765964	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv949397	chr6:161592100-161812932	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2752091	chr6:161592100-161855785	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1029727	chr6:161607680-161814295	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1030623	chr6:161611170-161796985	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv538494	chr6:161611170-161796985	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv886818	chr6:161629323-161723705	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv481931	chr6:161647026-161961906	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv533149	chr6:161653240-161769727	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161638200-161693800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:161638600-161668000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:161639000-161666200	Weak transcription	Aorta	Aorta
4	chr6:161639200-161664400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:161649600-161693800	Weak transcription	Right Atrium	heart
6	chr6:161651000-161677000	Weak transcription	Spleen	Spleen
7	chr6:161651200-161666000	Weak transcription	Primary T cells from cord blood	blood
8	chr6:161653200-161664200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr6:161653800-161693800	Weak transcription	Primary B cells from cord blood	blood
10	chr6:161654000-161664000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:161655800-161680400	Weak transcription	HMEC	breast
12	chr6:161656000-161664200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:161656000-161664200	Weak transcription	NHDF-Ad	bronchial
14	chr6:161656000-161666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:161656200-161664200	Weak transcription	Placenta	Placenta
16	chr6:161656200-161664200	Weak transcription	NH-A	brain
17	chr6:161656200-161664400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:161656200-161664400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:161656200-161664400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:161656200-161665200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:161656200-161665800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:161656200-161675600	Weak transcription	NHLF	lung
23	chr6:161656400-161664200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:161656400-161664200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:161656800-161664200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:161657000-161664200	Weak transcription	HSMM	muscle
27	chr6:161657400-161664200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:161657600-161664400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:161657600-161664400	Weak transcription	Brain Angular Gyrus	brain
30	chr6:161657600-161664400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr6:161657600-161665800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr6:161657600-161666000	Weak transcription	Fetal Stomach	stomach
33	chr6:161657600-161677400	Weak transcription	Ovary	ovary
34	chr6:161657600-161683600	Weak transcription	HSMMtube	muscle
35	chr6:161657600-161693600	Weak transcription	Left Ventricle	heart
36	chr6:161657800-161664200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:161657800-161669000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:161658000-161664200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:161658000-161664200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:161658200-161664800	Weak transcription	Brain Germinal Matrix	brain
41	chr6:161659400-161664400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr6:161659400-161664400	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:161659400-161687200	Weak transcription	Esophagus	oesophagus
44	chr6:161659600-161664200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:161659600-161672200	Weak transcription	Fetal Heart	heart
46	chr6:161659800-161664400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:161660000-161664200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:161660000-161666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:161660200-161664200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:161660200-161664400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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