Variant report

Variant	rs56229946
Chromosome Location	chr10:22830438-22830439
allele	C/T
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	POLR2A	chr10:22830285-22831674	GM12891	blood:	n/a	n/a
2	POLR2A	chr10:22830338-22830593	K562	blood:	n/a	n/a
3	POLR2A	chr10:22830020-22831235	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:22829878-22830593	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:22830363-22830528	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr10:22830019-22835143	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22806896..22808716-chr10:22829174..22831476,2	MCF-7	breast:
2	chr10:22612242..22614907-chr10:22828805..22830854,2	MCF-7	breast:
3	chr10:22609418..22612107-chr10:22829799..22832731,2	MCF-7	breast:

Variant related genes	Relation type
PIP4K2A	TF binding region
ENSG00000168283	Chromatin interaction

rs_ID	r²[population]
rs11814650	1.00[EUR][1000 genomes]
rs12261630	1.00[EUR][1000 genomes]
rs1359639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16922450	0.82[AFR][1000 genomes]
rs16922558	1.00[EUR][1000 genomes]
rs59428338	0.88[AFR][1000 genomes]
rs62640376	0.88[AFR][1000 genomes]
rs6482230	1.00[EUR][1000 genomes]
rs7089954	0.91[AFR][1000 genomes]
rs7091618	1.00[EUR][1000 genomes]
rs72816866	1.00[EUR][1000 genomes]
rs74123076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7919135	1.00[EUR][1000 genomes]
rs7922160	1.00[EUR][1000 genomes]
rs7923540	0.88[AFR][1000 genomes]

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22822200-22834200	Strong transcription	Primary T cells from cord blood	blood
2	chr10:22822200-22856000	Weak transcription	Small Intestine	intestine
3	chr10:22822400-22833400	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr10:22822800-22832600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:22822800-22833400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr10:22822800-22870200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr10:22823000-22844600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:22823200-22831200	Strong transcription	Fetal Thymus	thymus
9	chr10:22823400-22845200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr10:22823600-22842200	Weak transcription	Colon Smooth Muscle	Colon
11	chr10:22823800-22833800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:22823800-22845200	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr10:22824000-22833800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr10:22824000-22844400	Strong transcription	Primary B cells from cord blood	blood
15	chr10:22824000-22844800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr10:22824000-22853000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr10:22824200-22831600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:22824200-22832000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:22824200-22833200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:22824200-22833600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:22824200-22839000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:22824200-22840000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:22824400-22836400	Weak transcription	NHEK	skin
24	chr10:22824400-22845400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr10:22824600-22836200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:22824800-22840800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:22825000-22830800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr10:22825000-22832400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:22825000-22832800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr10:22825000-22833200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr10:22825000-22833600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:22825000-22840200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr10:22825000-22840600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr10:22825000-22852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:22825000-22863800	Weak transcription	Hela-S3	cervix
36	chr10:22825200-22830600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:22825200-22831800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr10:22825200-22832000	Strong transcription	Adipose Nuclei	Adipose
39	chr10:22825200-22832800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr10:22825200-22833000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr10:22825200-22833200	Strong transcription	Fetal Muscle Leg	muscle
42	chr10:22825200-22833600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr10:22825200-22833600	Strong transcription	Thymus	Thymus
44	chr10:22825200-22835400	Strong transcription	Dnd41	blood
45	chr10:22825200-22840000	Strong transcription	Fetal Stomach	stomach
46	chr10:22825400-22831800	Strong transcription	Spleen	Spleen
47	chr10:22825400-22832000	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr10:22825400-22836800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr10:22825400-22838000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr10:22825400-22838000	Strong transcription	Fetal Intestine Small	intestine

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