Variant report

Variant	rs35245907
Chromosome Location	chr12:123213738-123213739
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	NR3C1	chr12:123213372-123213838	A549	lung:	n/a	n/a
2	NR3C1	chr12:123213375-123213786	A549	lung:	n/a	n/a
3	GATA1	chr12:123213501-123213955	K562	blood:	n/a	n/a
4	GATA3	chr12:123213445-123213806	T-47D	breast:	n/a	chr12:123213623-123213631
5	GATA3	chr12:123213637-123213878	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123212708..123217136-chr12:123232023..123237517,8	MCF-7	breast:
2	chr12:123210591..123212657-chr12:123213454..123215681,5	MCF-7	breast:
3	chr12:123210768..123212595-chr12:123213230..123215441,2	MCF-7	breast:
4	chr12:123213106..123215069-chr12:123321149..123322935,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270134	TF binding region
ENSG00000270134	Chromatin interaction
ENSG00000139726	Chromatin interaction
ENSG00000256044	Chromatin interaction

rs_ID	r²[population]
rs34647278	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57023093	1.00[AMR][1000 genomes]
rs58901651	1.00[AMR][1000 genomes]
rs59065210	1.00[AMR][1000 genomes]
rs60009235	1.00[AMR][1000 genomes]
rs60448869	1.00[AMR][1000 genomes]
rs60589503	1.00[AMR][1000 genomes]
rs61520028	1.00[AMR][1000 genomes]
rs73406914	1.00[AMR][1000 genomes]
rs73406940	1.00[AMR][1000 genomes]
rs73406948	1.00[AMR][1000 genomes]
rs73406954	1.00[AMR][1000 genomes]
rs73406957	1.00[AMR][1000 genomes]
rs73406959	1.00[AMR][1000 genomes]
rs73406973	1.00[AMR][1000 genomes]
rs73406977	1.00[AMR][1000 genomes]
rs73415564	1.00[AMR][1000 genomes]
rs73421628	1.00[AMR][1000 genomes]
rs73421644	1.00[AMR][1000 genomes]
rs73421649	1.00[AMR][1000 genomes]
rs73421661	1.00[AMR][1000 genomes]

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123201200-123214600	Weak transcription	Spleen	Spleen
2	chr12:123205200-123214600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:123207400-123214200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:123207800-123214800	Weak transcription	Brain Anterior Caudate	brain
5	chr12:123208200-123214200	Weak transcription	Fetal Thymus	thymus
6	chr12:123208200-123215200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:123208200-123217000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:123209600-123213800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:123210200-123214800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:123211000-123214200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:123211000-123214200	Weak transcription	Gastric	stomach
12	chr12:123211000-123214800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:123211000-123214800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:123211000-123215000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:123211000-123215000	Weak transcription	A549	lung
16	chr12:123211200-123213800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:123211200-123214400	Weak transcription	Primary T cells from cord blood	blood
18	chr12:123211200-123214400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:123211200-123214600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:123211200-123214600	Weak transcription	GM12878-XiMat	blood
21	chr12:123211200-123214800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:123211200-123215000	Weak transcription	Fetal Intestine Small	intestine
23	chr12:123211200-123215200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:123211800-123214000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:123211800-123214800	Weak transcription	NHEK	skin
26	chr12:123211800-123216000	Weak transcription	Primary B cells from cord blood	blood
27	chr12:123212000-123214200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:123212000-123214600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:123212000-123215200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:123212200-123214800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:123212400-123216000	Flanking Active TSS	HMEC	breast
32	chr12:123212600-123214600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:123212600-123215200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:123213000-123214200	Weak transcription	Osteobl	bone
35	chr12:123213000-123215000	Flanking Active TSS	HepG2	liver
36	chr12:123213000-123216000	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr12:123213200-123218200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:123213400-123216000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr12:123213600-123214000	Enhancers	Placenta	Placenta

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