Variant report

Variant	rs35967341
Chromosome Location	chr22:30607851-30607852
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr22:30607235-30607916	A549	lung:	n/a	chr22:30607560-30607576
2	POLR2A	chr22:30607315-30608040	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30605936..30608865-chr22:30612032..30614985,2	K562	blood:
2	chr22:30584661..30587555-chr22:30606550..30610248,3	MCF-7	breast:
3	chr22:30508949..30512192-chr22:30606244..30608279,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225676	TF binding region

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

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

rs_ID	r²[population]
rs5997592	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614160	0.81[EUR][1000 genomes]
rs9614163	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30597600-30609800	Enhancers	Stomach Mucosa	stomach
2	chr22:30597600-30610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr22:30600400-30610000	Enhancers	HMEC	breast
4	chr22:30601000-30610000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:30601800-30609800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr22:30601800-30610400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:30602000-30608400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr22:30603000-30609800	Enhancers	Osteobl	bone
9	chr22:30603400-30608400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr22:30603400-30610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:30603600-30610600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:30603800-30613600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:30604800-30608600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:30605000-30608400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr22:30605000-30609600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:30605400-30609400	Weak transcription	Colonic Mucosa	Colon
17	chr22:30605400-30613400	Weak transcription	Aorta	Aorta
18	chr22:30605600-30608200	Weak transcription	NHLF	lung
19	chr22:30605600-30608400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr22:30605600-30608400	Weak transcription	Colon Smooth Muscle	Colon
21	chr22:30605600-30608400	Weak transcription	Fetal Intestine Large	intestine
22	chr22:30605600-30608400	Weak transcription	HUVEC	blood vessel
23	chr22:30605600-30610600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr22:30605600-30622600	Weak transcription	Right Atrium	heart
25	chr22:30605800-30608400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr22:30605800-30608400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:30605800-30608400	Weak transcription	Fetal Thymus	thymus
28	chr22:30605800-30608400	Weak transcription	Spleen	Spleen
29	chr22:30606000-30608400	Weak transcription	NHDF-Ad	bronchial
30	chr22:30606000-30609200	Weak transcription	Ovary	ovary
31	chr22:30606000-30609800	Enhancers	Esophagus	oesophagus
32	chr22:30606400-30608400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:30606400-30608400	Weak transcription	K562	blood
34	chr22:30606600-30608400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr22:30606600-30608600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:30606600-30609000	Weak transcription	Brain Substantia Nigra	brain
37	chr22:30606800-30608400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:30606800-30608800	Weak transcription	Brain Angular Gyrus	brain
39	chr22:30606800-30609600	Enhancers	HSMM	muscle
40	chr22:30606800-30613800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr22:30607000-30608200	Weak transcription	NHEK	skin
42	chr22:30607000-30608400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:30607000-30608400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr22:30607000-30608400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:30607000-30608400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:30607000-30608400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr22:30607000-30608400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr22:30607000-30608400	Weak transcription	Brain Hippocampus Middle	brain
49	chr22:30607000-30608400	Weak transcription	Fetal Intestine Small	intestine
50	chr22:30607000-30608800	Weak transcription	Placenta Amnion	Placenta Amnion

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