Variant report

Variant	rs549342507
Chromosome Location	chr6:38150425-38150426
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38148276..38150715-chr6:38151734..38153951,2	K562	blood:
2	chr6:38143259..38145952-chr6:38146356..38150615,4	K562	blood:
3	chr6:38149475..38152864-chr6:38153550..38156647,3	K562	blood:
4	chr6:38150165..38152745-chr6:38153295..38155930,2	MCF-7	breast:
5	chr6:38144288..38145943-chr6:38150370..38152832,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv524213	chr6:38106844-38160627	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv517973	chr6:38131442-38152460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
8	nsv522522	chr6:38131442-38207636	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv520567	chr6:38144269-38152460	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv885819	chr6:38148770-38190439	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38121000-38159600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:38121800-38153600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:38123200-38153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr6:38123400-38155400	Weak transcription	Aorta	Aorta
5	chr6:38123400-38157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:38123400-38176800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:38123600-38153000	Weak transcription	Primary B cells from cord blood	blood
8	chr6:38123800-38151200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:38124000-38152200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:38124200-38151800	Weak transcription	Brain Anterior Caudate	brain
11	chr6:38131800-38167800	Weak transcription	Right Atrium	heart
12	chr6:38133600-38160400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:38133600-38164000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:38136000-38159800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:38136800-38156000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:38138600-38169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:38141200-38152400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:38141600-38166200	Weak transcription	Left Ventricle	heart
19	chr6:38141800-38168000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:38142200-38155400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:38142400-38153000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:38142800-38162000	Weak transcription	Adipose Nuclei	Adipose
23	chr6:38143200-38159200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:38143200-38161200	Weak transcription	Placenta	Placenta
25	chr6:38143600-38162400	Weak transcription	Right Ventricle	heart
26	chr6:38143600-38177200	Weak transcription	Ovary	ovary
27	chr6:38144000-38151600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:38144000-38159200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:38144000-38161400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:38144000-38161400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:38144000-38161600	Weak transcription	Thymus	Thymus
32	chr6:38144200-38155600	Weak transcription	Spleen	Spleen
33	chr6:38144600-38151800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:38145000-38151800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:38145200-38155600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:38145200-38156400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:38145200-38163400	Weak transcription	Colonic Mucosa	Colon
38	chr6:38145600-38155000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr6:38145600-38155200	Weak transcription	Fetal Muscle Leg	muscle
40	chr6:38145800-38152000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:38145800-38154600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:38145800-38159600	Weak transcription	Fetal Intestine Large	intestine
43	chr6:38145800-38159800	Weak transcription	Liver	Liver
44	chr6:38146000-38151400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:38146000-38162400	Weak transcription	Pancreas	Pancrea
46	chr6:38146200-38155000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:38146400-38151400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:38146400-38151600	Weak transcription	Fetal Stomach	stomach
49	chr6:38146400-38151800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:38146400-38151800	Weak transcription	Lung	lung

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