Variant report

Variant	rs3757370
Chromosome Location	chr6:88231226-88231227
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	chr6:88226102..88227716-chr6:88228342..88231492,4	K562	blood:
2	chr6:88226133..88227716-chr6:88228342..88231492,3	K562	blood:

Variant related genes	Relation type
ENSG00000146282	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17455247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17564089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2307368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6911364	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[ASN][1000 genomes]
rs9362437	1.00[CEU][hapmap];0.80[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018155	chr6:88049729-88272862	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1031961	chr6:88110401-88367006	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1031460	chr6:88153079-88410050	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1026482	chr6:88164934-88409728	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1027706	chr6:88168987-88409728	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88194000-88249000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:88207200-88242600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr6:88210200-88231400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:88210200-88232800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:88210200-88240600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr6:88210400-88235000	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr6:88210800-88231400	Strong transcription	Osteobl	bone
8	chr6:88210800-88235000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:88211000-88231400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:88211000-88235000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:88211000-88235200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:88211000-88241200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:88212000-88245200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:88214000-88231400	Strong transcription	NH-A	brain
15	chr6:88214200-88231400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr6:88214200-88244400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:88214800-88235400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:88215000-88231400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:88215200-88235000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:88215200-88235000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr6:88215800-88240800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:88216200-88231800	Strong transcription	HSMM	muscle
23	chr6:88217400-88232800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:88217800-88231800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:88217800-88295800	Weak transcription	Fetal Brain Male	brain
26	chr6:88218200-88235200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:88218600-88231400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr6:88218600-88231400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr6:88218600-88231400	Strong transcription	Placenta	Placenta
30	chr6:88218600-88236200	Strong transcription	Fetal Intestine Large	intestine
31	chr6:88218800-88231400	Strong transcription	Adipose Nuclei	Adipose
32	chr6:88219000-88249000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:88220000-88244200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr6:88221000-88235000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:88221000-88235400	Strong transcription	HepG2	liver
36	chr6:88221000-88240800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr6:88225000-88250800	Weak transcription	Stomach Mucosa	stomach
38	chr6:88225200-88231400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr6:88225600-88231400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr6:88225600-88231400	Strong transcription	K562	blood
41	chr6:88226000-88231400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:88227000-88250200	Weak transcription	Fetal Heart	heart
43	chr6:88227800-88298800	Weak transcription	Esophagus	oesophagus
44	chr6:88228000-88236600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:88228400-88239400	Weak transcription	Fetal Brain Female	brain
46	chr6:88228400-88250200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:88228400-88298400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:88228600-88231600	Weak transcription	Fetal Intestine Small	intestine
49	chr6:88228600-88236200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:88228600-88239000	Weak transcription	Right Ventricle	heart

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