Variant report

Variant	rs12664978
Chromosome Location	chr6:5456550-5456551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5451514..5453139-chr6:5455554..5457510,2	K562	blood:
2	chr6:5455034..5457596-chr6:5459159..5460952,3	K562	blood:

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

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

rs_ID	r²[population]
rs17140417	1.00[CEU][hapmap]
rs2791457	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs418826	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv883418	chr6:5307432-5501389	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1030744	chr6:5328012-5458222	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1023027	chr6:5377308-5556749	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv538121	chr6:5377308-5556749	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv600886	chr6:5426265-5511614	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1017506	chr6:5443538-5551125	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5421600-5457400	Weak transcription	Fetal Intestine Small	intestine
2	chr6:5433600-5457400	Weak transcription	Left Ventricle	heart
3	chr6:5433600-5461400	Weak transcription	Fetal Stomach	stomach
4	chr6:5434200-5487000	Weak transcription	Aorta	Aorta
5	chr6:5437400-5471200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:5438200-5471200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:5439600-5459800	Weak transcription	Primary T cells from cord blood	blood
8	chr6:5443000-5457200	Weak transcription	Brain Anterior Caudate	brain
9	chr6:5443800-5458200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:5444000-5456600	Weak transcription	Lung	lung
11	chr6:5444000-5456800	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:5444000-5457000	Weak transcription	Esophagus	oesophagus
13	chr6:5444000-5457000	Weak transcription	Pancreas	Pancrea
14	chr6:5444400-5457000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:5444400-5458200	Weak transcription	Psoas Muscle	Psoas
16	chr6:5447600-5460600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:5448200-5457400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:5448600-5466800	Weak transcription	Primary B cells from cord blood	blood
19	chr6:5449000-5499400	Weak transcription	Fetal Intestine Large	intestine
20	chr6:5450600-5457000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:5450800-5457200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:5450800-5459600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr6:5451200-5457000	Weak transcription	Gastric	stomach
24	chr6:5453000-5471000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:5453200-5460600	Weak transcription	Dnd41	blood
26	chr6:5453800-5457000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:5453800-5457000	Weak transcription	Brain Substantia Nigra	brain
28	chr6:5454200-5457400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:5454200-5458400	Weak transcription	Colonic Mucosa	Colon
30	chr6:5454800-5472000	Weak transcription	Spleen	Spleen
31	chr6:5455000-5459000	Enhancers	Adipose Nuclei	Adipose
32	chr6:5455000-5460000	Enhancers	Fetal Brain Male	brain
33	chr6:5455200-5457000	Weak transcription	Brain Angular Gyrus	brain
34	chr6:5455200-5457200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:5455200-5457200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:5455200-5457400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr6:5455400-5457000	Weak transcription	Liver	Liver
38	chr6:5455400-5457000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:5455400-5457000	Weak transcription	Right Atrium	heart
40	chr6:5455400-5457000	Weak transcription	Right Ventricle	heart
41	chr6:5455400-5457400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:5455800-5457000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:5455800-5457000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr6:5455800-5458600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:5456000-5457000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:5456000-5457400	Weak transcription	Fetal Brain Female	brain
47	chr6:5456400-5456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:5456400-5457400	Weak transcription	Fetal Lung	lung
49	chr6:5456400-5458000	Enhancers	NHEK	skin
50	chr6:5456400-5486000	Weak transcription	Thymus	Thymus

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