Variant report

Variant	rs595921
Chromosome Location	chr12:120970064-120970065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:120970056-120970386	GM12878	blood:	n/a	n/a
2	SPI1	chr12:120970062-120970416	GM12891	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120905972..120909439-chr12:120965576..120970322,8	MCF-7	breast:
2	chr12:120728453..120733011-chr12:120965347..120973411,16	MCF-7	breast:
3	chr12:120931985..120935585-chr12:120970035..120974742,8	MCF-7	breast:
4	chr12:120932857..120935871-chr12:120969535..120974885,9	K562	blood:
5	chr12:120964646..120969249-chr12:120969286..120973951,11	MCF-7	breast:

No data

Variant related genes	Relation type
COQ5	TF binding region
RNF10	TF binding region
ENSG00000248008	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000111786	Chromatin interaction

rs_ID	r²[population]
rs483406	1.00[AMR][1000 genomes]
rs488313	1.00[AMR][1000 genomes]
rs529961	0.85[AFR][1000 genomes]
rs560385	1.00[AMR][1000 genomes]
rs634527	1.00[AMR][1000 genomes]
rs787949	1.00[AMR][1000 genomes]

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120967200-120972200	Weak transcription	Spleen	Spleen
2	chr12:120967400-120972000	Weak transcription	Esophagus	oesophagus
3	chr12:120967400-120972200	Weak transcription	Lung	lung
4	chr12:120967400-120972200	Weak transcription	Small Intestine	intestine
5	chr12:120967600-120972200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:120967800-120971200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:120967800-120971600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:120967800-120971800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:120967800-120971800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:120967800-120971800	Weak transcription	Left Ventricle	heart
11	chr12:120967800-120971800	Weak transcription	HSMMtube	muscle
12	chr12:120967800-120972000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:120967800-120972000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:120968000-120970400	Weak transcription	Fetal Heart	heart
15	chr12:120968000-120970400	Weak transcription	GM12878-XiMat	blood
16	chr12:120968000-120970600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:120968000-120970600	Weak transcription	K562	blood
18	chr12:120968000-120970800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:120968000-120971200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:120968000-120971200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:120968000-120971200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:120968000-120971600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:120968000-120971800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:120968000-120971800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:120968000-120971800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:120968000-120971800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:120968000-120971800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:120968000-120971800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:120968000-120971800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:120968000-120971800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:120968000-120971800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:120968000-120971800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:120968000-120971800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:120968000-120971800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:120968000-120971800	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:120968000-120971800	Weak transcription	Fetal Lung	lung
37	chr12:120968000-120971800	Weak transcription	Ovary	ovary
38	chr12:120968000-120971800	Weak transcription	Stomach Mucosa	stomach
39	chr12:120968000-120971800	Weak transcription	Thymus	Thymus
40	chr12:120968000-120972000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:120968000-120972000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr12:120968000-120972000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:120968000-120972000	Weak transcription	NH-A	brain
44	chr12:120968200-120970600	Weak transcription	Primary T cells from cord blood	blood
45	chr12:120968200-120970600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:120968200-120970800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr12:120968200-120970800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:120968200-120971200	Weak transcription	Dnd41	blood
49	chr12:120968200-120971600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:120968200-120971600	Weak transcription	Fetal Muscle Trunk	muscle

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