Variant report

Variant	rs568934873
Chromosome Location	chr22:31998990-31998991
allele	A/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	GATA1	chr22:31998614-31999556	PBDE	blood:	n/a	chr22:31999274-31999281 chr22:31999285-31999295 chr22:31999285-31999294 chr22:31999287-31999294 chr22:31999284-31999296 chr22:31999276-31999293
2	GATA1	chr22:31998956-31999523	K562	blood:	n/a	chr22:31999274-31999281 chr22:31999285-31999295 chr22:31999285-31999294 chr22:31999287-31999294 chr22:31999284-31999296 chr22:31999276-31999293

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31995326..31999503-chr22:32025440..32027156,3	MCF-7	breast:
2	chr22:31981120..31983681-chr22:31997559..32000083,2	MCF-7	breast:

Variant related genes	Relation type
SFI1	TF binding region
ENSG00000241878	Chromatin interaction

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

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	nsv914980	chr22:31966274-32024980	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv517534	chr22:31977594-32024980	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv829176	chr22:31998223-32029556	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
4	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
7	chr22:31976200-32014800	Weak transcription	A549	lung
8	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
10	chr22:31982600-32006400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr22:31984400-31999000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr22:31985600-32014000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:31985800-31999400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:31985800-32006600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:31985800-32010400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr22:31985800-32012400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr22:31985800-32014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:31985800-32014800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:31990400-32014200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr22:31993200-32001200	Weak transcription	Stomach Mucosa	stomach
21	chr22:31993200-32013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr22:31995400-32000200	Strong transcription	Fetal Intestine Small	intestine
23	chr22:31995600-31999200	Enhancers	HUVEC	blood vessel
24	chr22:31996000-31999200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:31996000-32008400	Strong transcription	Primary T cells from cord blood	blood
26	chr22:31996200-32010000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr22:31996400-32000800	Enhancers	Placenta	Placenta
28	chr22:31996400-32002800	Strong transcription	Dnd41	blood
29	chr22:31996400-32010800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr22:31996600-31999200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:31996600-32010600	Strong transcription	Thymus	Thymus
32	chr22:31996600-32011200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr22:31996600-32011800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr22:31996600-32012200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr22:31996600-32018200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr22:31996600-32020600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:31996800-32002600	Strong transcription	GM12878-XiMat	blood
38	chr22:31996800-32011600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr22:31997200-32000000	Genic enhancers	Fetal Stomach	stomach
40	chr22:31997200-32012000	Strong transcription	Fetal Thymus	thymus
41	chr22:31997400-32001200	Strong transcription	Brain Hippocampus Middle	brain
42	chr22:31997400-32002800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr22:31997400-32010400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr22:31997600-31999400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:31997600-31999400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:31997600-32000000	Enhancers	Colon Smooth Muscle	Colon
47	chr22:31997600-32000200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr22:31997600-32000400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:31997600-32000400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr22:31997600-32001600	Strong transcription	Fetal Muscle Leg	muscle

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