Variant report

Variant	rs71196640
Chromosome Location	chr22:29602243-29602244
allele	-/AGG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29601873..29603950-chr22:29609240..29612185,2	MCF-7	breast:
2	chr22:29601210..29603979-chr22:29627327..29629637,2	K562	blood:

Variant related genes	Relation type
ENSG00000186998	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS 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	12 gene(s)	inside rSNPs	diseases
3	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3344633	chr22:29601102-29603000	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29600600-29603600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:29600800-29603000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr22:29601000-29602400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr22:29601000-29602800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr22:29601000-29603400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr22:29601200-29602600	Active TSS	A549	lung
7	chr22:29601200-29602800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
8	chr22:29601200-29603400	Active TSS	Fetal Kidney	kidney
9	chr22:29601200-29603400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
10	chr22:29601400-29602400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr22:29601400-29602400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:29601400-29602400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:29601400-29602400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr22:29601400-29602400	Active TSS	Colon Smooth Muscle	Colon
15	chr22:29601400-29602400	Bivalent/Poised TSS	HSMM	muscle
16	chr22:29601400-29602400	Active TSS	NH-A	brain
17	chr22:29601400-29602600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:29601400-29602600	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr22:29601400-29602600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr22:29601400-29602600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr22:29601400-29602600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr22:29601400-29602600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:29601400-29602600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr22:29601400-29602800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr22:29601400-29602800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr22:29601400-29602800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:29601400-29602800	Active TSS	Ovary	ovary
28	chr22:29601400-29602800	Bivalent/Poised TSS	Thymus	Thymus
29	chr22:29601400-29603000	Active TSS	Brain Anterior Caudate	brain
30	chr22:29601400-29603200	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr22:29601400-29603200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr22:29601400-29603200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr22:29601400-29603600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
34	chr22:29601600-29602400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr22:29601600-29602400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr22:29601600-29602400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:29601600-29602400	Active TSS	Aorta	Aorta
38	chr22:29601600-29602400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr22:29601600-29602400	Flanking Active TSS	Right Ventricle	heart
40	chr22:29601600-29602400	Bivalent/Poised TSS	Osteobl	bone
41	chr22:29601600-29602600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:29601600-29602600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr22:29601600-29602600	Active TSS	Right Atrium	heart
44	chr22:29601600-29602600	Bivalent/Poised TSS	HepG2	liver
45	chr22:29601600-29602600	Bivalent/Poised TSS	HUVEC	blood vessel
46	chr22:29601600-29602600	Active TSS	K562	blood
47	chr22:29601600-29602800	Active TSS	Lung	lung
48	chr22:29601600-29602800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
49	chr22:29601600-29602800	Active TSS	Spleen	Spleen
50	chr22:29601600-29603000	Active TSS	Fetal Intestine Small	intestine

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