Variant report

Variant	rs55770390
Chromosome Location	chr9:71564109-71564110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57032203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60502138	1.00[AMR][1000 genomes]
rs60774937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv466393	chr9:71453443-71704827	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv614547	chr9:71453443-71704827	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
15	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
16	nsv614549	chr9:71506459-71659280	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv1051798	chr9:71511805-71792032	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
19	esv1833433	chr9:71544920-71598165	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71510400-71576200	Weak transcription	Stomach Mucosa	stomach
2	chr9:71519400-71573000	Weak transcription	Gastric	stomach
3	chr9:71535000-71569600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:71542200-71564400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr9:71548800-71564200	Weak transcription	Placenta	Placenta
6	chr9:71549200-71566200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr9:71549200-71570000	Weak transcription	Fetal Stomach	stomach
8	chr9:71549600-71569600	Weak transcription	Fetal Kidney	kidney
9	chr9:71553400-71567200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:71553800-71565000	Weak transcription	Pancreas	Pancrea
11	chr9:71554400-71565200	Weak transcription	Small Intestine	intestine
12	chr9:71554400-71569600	Weak transcription	Aorta	Aorta
13	chr9:71556600-71566600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr9:71557400-71566400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr9:71557600-71578400	Weak transcription	HepG2	liver
16	chr9:71558000-71565200	Weak transcription	Lung	lung
17	chr9:71558000-71569200	Weak transcription	Right Ventricle	heart
18	chr9:71558200-71579200	Weak transcription	Colonic Mucosa	Colon
19	chr9:71558400-71565200	Weak transcription	Left Ventricle	heart
20	chr9:71558400-71566400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr9:71559200-71565400	Strong transcription	Primary B cells from cord blood	blood
22	chr9:71559800-71564800	Weak transcription	Fetal Intestine Large	intestine
23	chr9:71560600-71566400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr9:71561600-71566600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr9:71562000-71566600	Strong transcription	Fetal Intestine Small	intestine
26	chr9:71562400-71565000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:71562400-71565000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:71562400-71578000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr9:71562400-71579400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:71562800-71564200	Enhancers	GM12878-XiMat	blood
31	chr9:71562800-71564400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:71563000-71564200	Weak transcription	Fetal Heart	heart
33	chr9:71563000-71564400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:71563000-71564400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:71563000-71566800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:71563200-71564200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:71563200-71564400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr9:71563200-71564400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:71563400-71564600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr9:71563400-71564800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:71563400-71567000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr9:71563400-71569600	Weak transcription	Brain Germinal Matrix	brain
43	chr9:71563400-71569600	Weak transcription	Spleen	Spleen
44	chr9:71563400-71578400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr9:71563600-71565200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr9:71563800-71566400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr9:71563800-71566400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr9:71564000-71564400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr9:71564000-71565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr9:71564000-71565600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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