Variant report

Variant	rs35173692
Chromosome Location	chr11:73003226-73003227
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73001661..73003546-chr11:73017703..73019777,2	K562	blood:
2	chr11:72996129..72998235-chr11:73000749..73003241,2	MCF-7	breast:
3	chr11:73000200..73002176-chr11:73003016..73005569,2	K562	blood:

Variant related genes	Relation type
ENSG00000171631	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12787393	1.00[AFR][1000 genomes]
rs12796417	1.00[AFR][1000 genomes]
rs12798517	1.00[AFR][1000 genomes]
rs35955142	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35173692	C2CD3	cis	occipital cortex	BrainEAC

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72997000-73003400	Enhancers	Fetal Intestine Large	intestine
2	chr11:72998400-73003600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:72999000-73004600	Enhancers	Spleen	Spleen
4	chr11:72999800-73005000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:73000600-73003400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:73000600-73003400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:73000600-73011200	Weak transcription	Aorta	Aorta
8	chr11:73000800-73003400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:73000800-73006200	Weak transcription	Right Atrium	heart
10	chr11:73000800-73007400	Weak transcription	Right Ventricle	heart
11	chr11:73000800-73008200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:73000800-73018000	Weak transcription	Pancreas	Pancrea
13	chr11:73001000-73003400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:73001000-73003400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:73001000-73003400	Weak transcription	Osteobl	bone
16	chr11:73001000-73004000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:73001000-73005200	Weak transcription	NHDF-Ad	bronchial
18	chr11:73001000-73006200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:73001000-73006200	Weak transcription	Fetal Heart	heart
20	chr11:73001000-73006200	Weak transcription	Hela-S3	cervix
21	chr11:73001000-73006200	Weak transcription	HMEC	breast
22	chr11:73001000-73006200	Weak transcription	HSMM	muscle
23	chr11:73001000-73006400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:73001000-73006400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:73001000-73006400	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:73001000-73006400	Weak transcription	Left Ventricle	heart
27	chr11:73001200-73003600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:73001200-73006200	Weak transcription	HUVEC	blood vessel
29	chr11:73001200-73010800	Weak transcription	Adipose Nuclei	Adipose
30	chr11:73001600-73005000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:73001800-73003400	Enhancers	Fetal Intestine Small	intestine
32	chr11:73002000-73003800	Enhancers	A549	lung
33	chr11:73002000-73006400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:73002400-73004000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:73002800-73007200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:73003000-73004000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:73003000-73004000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:73003000-73004000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:73003000-73004200	Enhancers	NH-A	brain
40	chr11:73003000-73004400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:73003000-73004400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr11:73003000-73004400	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr11:73003200-73003600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
44	chr11:73003200-73003600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:73003200-73004000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
46	chr11:73003200-73004000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
47	chr11:73003200-73004600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:73003200-73005200	Enhancers	Placenta	Placenta

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