Variant report

Variant	rs368260579
Chromosome Location	chr1:227755810-227755811
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	chr1:227753836..227756057-chr1:227770854..227772985,2	K562	blood:
2	chr1:227753749..227755890-chr1:227756873..227759865,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3338615	chr1:227738421-227798486	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv947073	chr1:227755113-227760558	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227751800-227756400	Weak transcription	Spleen	Spleen
2	chr1:227752000-227756200	Weak transcription	Gastric	stomach
3	chr1:227752000-227756400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:227752000-227756400	Weak transcription	Lung	lung
5	chr1:227752000-227757400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:227752000-227759800	Weak transcription	Left Ventricle	heart
7	chr1:227752000-227760000	Weak transcription	Esophagus	oesophagus
8	chr1:227752000-227766800	Weak transcription	Ovary	ovary
9	chr1:227752200-227756200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:227752200-227756400	Weak transcription	Right Ventricle	heart
11	chr1:227752200-227758200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:227752200-227758800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:227752200-227760000	Weak transcription	Fetal Intestine Large	intestine
14	chr1:227752200-227763200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:227752200-227774400	Weak transcription	Aorta	Aorta
16	chr1:227752400-227756000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:227752400-227756200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:227752400-227756600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:227752400-227756600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:227752400-227757000	Weak transcription	NHDF-Ad	bronchial
21	chr1:227752400-227757400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:227752400-227757600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:227752400-227757800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:227752400-227758000	Weak transcription	Osteobl	bone
25	chr1:227752400-227758200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:227752400-227759600	Weak transcription	Primary T cells from cord blood	blood
27	chr1:227752400-227759800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:227752400-227759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:227752400-227759800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:227752400-227760000	Weak transcription	Fetal Kidney	kidney
31	chr1:227752400-227760000	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:227752400-227760000	Weak transcription	NHEK	skin
33	chr1:227752400-227760200	Weak transcription	Fetal Heart	heart
34	chr1:227752400-227760200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:227752400-227763000	Weak transcription	Stomach Mucosa	stomach
36	chr1:227752400-227763800	Weak transcription	HSMMtube	muscle
37	chr1:227752400-227766800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:227752400-227780600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:227752600-227756200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:227752600-227756200	Weak transcription	Pancreas	Pancrea
41	chr1:227752600-227756600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:227752600-227757800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:227752600-227757800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:227752600-227757800	Weak transcription	Right Atrium	heart
45	chr1:227752600-227759800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:227752600-227760000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr1:227752600-227760000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:227752600-227760000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:227752800-227759400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:227753200-227756000	Weak transcription	Primary T cells fromperipheralblood	blood

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