Variant report

Variant	rs10158600
Chromosome Location	chr1:59251977-59251978
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	CHD1	chr1:59244118-59252745	IMR90	lung:	n/a	chr1:59250203-59250213
2	RAD21	chr1:59247406-59252535	IMR90	lung:	n/a	chr1:59249492-59249505 chr1:59250252-59250265 chr1:59249113-59249126
3	SMC3	chr1:59247381-59251998	SK-N-SH	brain:	n/a	chr1:59250364-59250374
4	NFIC	chr1:59247097-59251987	SK-N-SH	brain:	n/a	chr1:59251579-59251596
5	ZNF143	chr1:59251875-59252131	K562	blood:	n/a	n/a
6	RAD21	chr1:59247132-59251981	SK-N-SH	brain:	n/a	chr1:59249492-59249505 chr1:59250252-59250265 chr1:59249113-59249126
7	RCOR1	chr1:59251839-59252148	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:59245489..59255081-chr1:59277954..59283925,49	MCF-7	breast:
2	chr1:59245578..59252912-chr1:59759683..59766457,13	MCF-7	breast:
3	chr1:59243458..59255133-chr1:59272031..59283720,29	K562	blood:
4	chr1:59162606..59168890-chr1:59243728..59252069,16	K562	blood:
5	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:
6	chr1:59243405..59253875-chr1:59275011..59289058,45	MCF-7	breast:

Variant related genes	Relation type
JUN	TF binding region
ENSG00000172456	Chromatin interaction
ENSG00000272226	Chromatin interaction
ENSG00000162601	Chromatin interaction
ENSG00000232453	Chromatin interaction

rs_ID	r²[population]
rs10157302	1.00[AFR][1000 genomes]
rs10158603	1.00[AFR][1000 genomes]
rs11807819	0.92[AFR][1000 genomes]
rs58485839	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59246800-59252000	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr1:59248000-59252000	Active TSS	Primary T cells from cord blood	blood
3	chr1:59251000-59252000	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr1:59251200-59252000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:59251200-59252600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:59251400-59252000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:59251400-59252000	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:59251400-59252200	Weak transcription	Gastric	stomach
9	chr1:59251400-59252400	Enhancers	HSMMtube	muscle
10	chr1:59251400-59252600	Enhancers	HSMM	muscle
11	chr1:59251400-59252800	Enhancers	HUVEC	blood vessel
12	chr1:59251400-59256000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:59251400-59275000	Weak transcription	Ovary	ovary
14	chr1:59251400-59279200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:59251600-59252000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr1:59251600-59252000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr1:59251600-59252000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:59251600-59252000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:59251600-59252000	Enhancers	Liver	Liver
20	chr1:59251600-59252000	Enhancers	Brain Angular Gyrus	brain
21	chr1:59251600-59252000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:59251600-59252000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:59251600-59252000	Enhancers	Fetal Brain Male	brain
24	chr1:59251600-59252000	Enhancers	A549	lung
25	chr1:59251600-59252200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:59251600-59252200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:59251600-59252200	Enhancers	Fetal Brain Female	brain
28	chr1:59251600-59252200	Enhancers	NHEK	skin
29	chr1:59251600-59252400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:59251600-59252400	Enhancers	NH-A	brain
31	chr1:59251600-59252600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:59251600-59252600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr1:59251600-59252600	Enhancers	Fetal Heart	heart
34	chr1:59251600-59252600	Enhancers	Fetal Intestine Large	intestine
35	chr1:59251600-59252600	Enhancers	Fetal Lung	lung
36	chr1:59251600-59252600	Enhancers	Fetal Muscle Leg	muscle
37	chr1:59251600-59252600	Enhancers	Fetal Stomach	stomach
38	chr1:59251600-59252600	Weak transcription	Spleen	Spleen
39	chr1:59251600-59252600	Enhancers	HMEC	breast
40	chr1:59251600-59252800	Enhancers	Primary B cells from peripheral blood	blood
41	chr1:59251600-59252800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:59251600-59253000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr1:59251600-59253200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr1:59251600-59256000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:59251600-59256800	Weak transcription	Esophagus	oesophagus
46	chr1:59251600-59260000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:59251600-59261400	Weak transcription	Psoas Muscle	Psoas
48	chr1:59251800-59252000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr1:59251800-59252000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr1:59251800-59252000	Enhancers	Duodenum Mucosa	Duodenum

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