Variant report

Variant	rs11802311
Chromosome Location	chr1:227088492-227088493
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227088122..227093330-chr1:227093838..227098256,5	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12117207	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227059800-227095000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:227069400-227102800	Weak transcription	K562	blood
3	chr1:227071000-227089000	Strong transcription	Stomach Smooth Muscle	stomach
4	chr1:227071200-227091400	Weak transcription	Osteobl	bone
5	chr1:227071800-227102400	Weak transcription	Small Intestine	intestine
6	chr1:227072200-227091800	Weak transcription	Fetal Kidney	kidney
7	chr1:227072200-227100400	Weak transcription	Stomach Mucosa	stomach
8	chr1:227073400-227088600	Strong transcription	Fetal Stomach	stomach
9	chr1:227073400-227092200	Strong transcription	Pancreas	Pancrea
10	chr1:227073800-227100600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:227074200-227091800	Weak transcription	Fetal Heart	heart
12	chr1:227074800-227090000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:227074800-227090200	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:227075000-227088800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:227075200-227091800	Weak transcription	Right Atrium	heart
16	chr1:227075400-227088800	Strong transcription	Liver	Liver
17	chr1:227078600-227091600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:227079800-227097200	Weak transcription	Brain Germinal Matrix	brain
19	chr1:227080000-227094800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:227080200-227090600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:227080400-227090000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:227080600-227088800	Strong transcription	Adipose Nuclei	Adipose
23	chr1:227080600-227089000	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:227080600-227089800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr1:227080800-227093600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:227081000-227088800	Strong transcription	Fetal Muscle Leg	muscle
27	chr1:227081800-227089200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:227082400-227091000	Weak transcription	NHLF	lung
29	chr1:227082600-227089000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:227082800-227089000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:227082800-227110600	Weak transcription	Fetal Brain Female	brain
32	chr1:227083000-227089800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:227083000-227092000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:227083200-227091400	Weak transcription	Colonic Mucosa	Colon
35	chr1:227083200-227099400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:227083200-227126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:227083400-227090200	Weak transcription	NHEK	skin
38	chr1:227083800-227097200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:227083800-227097400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:227084000-227093400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:227084200-227091400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:227084800-227096800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:227085200-227088600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:227085600-227093200	Weak transcription	Fetal Intestine Large	intestine
45	chr1:227086400-227091400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:227086600-227088800	Strong transcription	Colon Smooth Muscle	Colon
47	chr1:227086800-227088800	Strong transcription	NHDF-Ad	bronchial
48	chr1:227086800-227089000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:227087000-227088600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:227087000-227088600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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