Variant report

Variant	rs538429119
Chromosome Location	chr22:29177928-29177929
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29136406..29138475-chr22:29177322..29179599,3	MCF-7	breast:
2	chr22:29165791..29171536-chr22:29171828..29178249,15	MCF-7	breast:
3	chr22:29175785..29179613-chr22:29195586..29198060,4	K562	blood:

Variant related genes	Relation type
ENSG00000100219	Chromatin interaction
ENSG00000159873	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000226471	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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 miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	esv3517058	chr22:29176967-29179307	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3517059	chr22:29176967-29179307	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv2430624	chr22:29177114-29178745	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3436360	chr22:29177240-29177934	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29169800-29179600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:29169800-29180000	Weak transcription	Colonic Mucosa	Colon
3	chr22:29169800-29180200	Weak transcription	Stomach Mucosa	stomach
4	chr22:29169800-29190400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:29170000-29179200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:29170000-29179600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:29170000-29182200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:29170000-29190200	Weak transcription	Fetal Heart	heart
9	chr22:29170000-29194200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr22:29170200-29178000	Weak transcription	Brain Anterior Caudate	brain
11	chr22:29170200-29178800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:29170200-29182400	Strong transcription	Fetal Stomach	stomach
13	chr22:29170400-29183800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr22:29170400-29184000	Strong transcription	Fetal Muscle Leg	muscle
15	chr22:29170400-29185600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:29170600-29184600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:29170600-29184800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr22:29170600-29185400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr22:29170600-29186000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:29170600-29186400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr22:29170800-29179800	Weak transcription	Fetal Brain Male	brain
22	chr22:29170800-29186400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr22:29171000-29178000	Weak transcription	Brain Angular Gyrus	brain
24	chr22:29171000-29179600	Weak transcription	Small Intestine	intestine
25	chr22:29171000-29185600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr22:29171200-29178600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr22:29171200-29179000	Weak transcription	Brain Substantia Nigra	brain
28	chr22:29171200-29179200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr22:29171200-29186800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:29171200-29188600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:29171400-29179600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr22:29171400-29186000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr22:29171600-29178000	Weak transcription	Fetal Kidney	kidney
34	chr22:29171800-29178000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr22:29171800-29186200	Strong transcription	Fetal Thymus	thymus
36	chr22:29172000-29179400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr22:29172200-29179600	Weak transcription	NHLF	lung
38	chr22:29172400-29178000	Weak transcription	Right Ventricle	heart
39	chr22:29172400-29178000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr22:29172400-29179200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr22:29172400-29179400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr22:29172400-29186200	Strong transcription	Placenta	Placenta
43	chr22:29172600-29184200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr22:29173000-29178600	Weak transcription	A549	lung
45	chr22:29173200-29185600	Strong transcription	Left Ventricle	heart
46	chr22:29173600-29179200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr22:29173800-29178000	Weak transcription	Fetal Brain Female	brain
48	chr22:29173800-29178000	Weak transcription	Spleen	Spleen
49	chr22:29173800-29185600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:29173800-29193000	Weak transcription	Right Atrium	heart

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