Variant report

Variant	rs34769103
Chromosome Location	chr22:27708558-27708559
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:27707736..27710195-chr22:27719270..27720776,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRYBA4-8	chr22:27706612-27711010	XLOC_014197
2	lnc-CRYBA4-8	chr22:27706612-27711010	ENSG00000226741

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13058091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34229941	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34598999	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34856866	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34857171	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35516753	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35575363	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36013403	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36032721	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57298963	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs573008	0.92[EUR][1000 genomes]
rs66507623	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67915283	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71325236	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71325237	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883119	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73883121	0.87[AMR][1000 genomes];0.96[EUR][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	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers 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
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3359531	chr22:27706552-27710850	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27704200-27708600	Weak transcription	Right Atrium	heart
2	chr22:27705800-27709400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:27705800-27710800	Enhancers	Ovary	ovary
4	chr22:27706000-27709200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:27706000-27709400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr22:27706000-27709600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:27706800-27708800	Enhancers	Spleen	Spleen
8	chr22:27706800-27709000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:27706800-27709000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:27706800-27709400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:27706800-27715400	Enhancers	Fetal Intestine Large	intestine
12	chr22:27707000-27708800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr22:27707000-27709400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:27707000-27710200	Enhancers	Duodenum Mucosa	Duodenum
15	chr22:27707000-27710800	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr22:27707200-27710400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:27707200-27715400	Enhancers	Fetal Intestine Small	intestine
18	chr22:27707400-27710000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr22:27707400-27710800	Enhancers	Adipose Nuclei	Adipose
20	chr22:27707400-27714600	Enhancers	Colonic Mucosa	Colon
21	chr22:27707600-27709000	Bivalent Enhancer	Fetal Heart	heart
22	chr22:27707600-27709600	Enhancers	Primary hematopoietic stem cells	blood
23	chr22:27707600-27709800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:27707600-27710400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:27707800-27709600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr22:27707800-27709800	Enhancers	Osteobl	bone
27	chr22:27707800-27710600	Enhancers	Fetal Stomach	stomach
28	chr22:27708000-27708600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr22:27708000-27709200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr22:27708000-27709400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr22:27708000-27710000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:27708000-27710400	Enhancers	Aorta	Aorta
33	chr22:27708000-27710600	Enhancers	Brain Germinal Matrix	brain
34	chr22:27708200-27708600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr22:27708200-27708600	Weak transcription	Lung	lung
36	chr22:27708200-27709000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr22:27708200-27709000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr22:27708200-27709600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:27708200-27709600	Enhancers	Fetal Muscle Leg	muscle
40	chr22:27708200-27709800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr22:27708200-27709800	Weak transcription	Small Intestine	intestine
42	chr22:27708200-27710200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:27708200-27713400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:27708200-27715200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr22:27708400-27708600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr22:27708400-27708600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
47	chr22:27708400-27708600	Enhancers	Brain Anterior Caudate	brain
48	chr22:27708400-27708600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:27708400-27708600	Flanking Active TSS	Fetal Brain Male	brain
50	chr22:27708400-27708800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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