Variant report

Variant	rs9860712
Chromosome Location	chr3:111856447-111856448
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	ATF2	chr3:111854493-111856546	GM12878	blood:	n/a	n/a
2	CTCF	chr3:111856028-111856451	HCT-116	colon:	n/a	chr3:111856137-111856153
3	CEBPB	chr3:111854430-111856554	GM12878	blood:	n/a	n/a
4	RFX5	chr3:111855706-111856496	GM12878	blood:	n/a	chr3:111856465-111856478
5	TCF7L2	chr3:111855912-111856450	HEK293	kidney:	n/a	n/a
6	PML	chr3:111854348-111856637	GM12878	blood:	n/a	n/a
7	BCLAF1	chr3:111855436-111856569	GM12878	blood:	n/a	n/a
8	MEF2A	chr3:111855731-111856561	GM12878	blood:	n/a	chr3:111856250-111856265 chr3:111856249-111856265 chr3:111856246-111856267 chr3:111856253-111856262 chr3:111856246-111856267 chr3:111856252-111856263 chr3:111856500-111856517
9	RAD21	chr3:111855712-111856455	GM12878	blood:	n/a	n/a
10	RAD21	chr3:111855731-111856472	HCT-116	colon:	n/a	n/a
11	TBP	chr3:111854620-111856510	GM12878	blood:	n/a	n/a
12	NFIC	chr3:111853158-111857194	GM12878	blood:	n/a	n/a
13	MXI1	chr3:111854659-111856491	GM12878	blood:	n/a	n/a
14	TBL1XR1	chr3:111854648-111856485	GM12878	blood:	n/a	n/a
15	RAD21	chr3:111855877-111856457	A549	lung:	n/a	n/a
16	RAD21	chr3:111855738-111856563	SK-N-SH	brain:	n/a	n/a
17	FOXM1	chr3:111854357-111856577	GM12878	blood:	n/a	n/a
18	GTF2F1	chr3:111856426-111856575	H1-hESC	embryonic stem cell:	n/a	n/a
19	RUNX3	chr3:111854611-111856498	GM12878	blood:	n/a	n/a
20	MTA3	chr3:111855550-111856586	GM12878	blood:	n/a	n/a
21	MEF2A	chr3:111855915-111856545	GM12878	blood:	n/a	chr3:111856250-111856265 chr3:111856249-111856265 chr3:111856246-111856267 chr3:111856253-111856262 chr3:111856246-111856267 chr3:111856252-111856263 chr3:111856500-111856517
22	RAD21	chr3:111855906-111856454	A549	lung:	n/a	n/a
23	RAD21	chr3:111855780-111856487	HCT-116	colon:	n/a	n/a
24	CTCF	chr3:111855521-111856471	A549	lung:	n/a	chr3:111856137-111856153
25	CTCF	chr3:111855765-111856453	HCT-116	colon:	n/a	chr3:111856137-111856153
26	ATF2	chr3:111854398-111856559	GM12878	blood:	n/a	n/a
27	MEF2C	chr3:111855881-111856509	GM12878	blood:	n/a	chr3:111856250-111856265 chr3:111856249-111856265 chr3:111856246-111856267 chr3:111856253-111856262 chr3:111856246-111856267 chr3:111856252-111856263
28	NFIC	chr3:111854445-111856586	GM12878	blood:	n/a	n/a
29	POLR2A	chr3:111843489-111856486	GM12878	blood:	n/a	n/a
30	CUX1	chr3:111854816-111856501	GM12878	blood:	n/a	n/a
31	RAD21	chr3:111855831-111856495	MCF-7	breast:	n/a	n/a
32	BATF	chr3:111855734-111856469	GM12878	blood:	n/a	n/a
33	MTA3	chr3:111845901-111857252	GM12878	blood:	n/a	n/a
34	STAT3	chr3:111855551-111856670	GM12878	blood:	n/a	chr3:111856436-111856443
35	EP300	chr3:111854719-111856460	GM12878	blood:	n/a	chr3:111855731-111855745
36	KAP1	chr3:111855877-111856524	U2OS	brain:	n/a	n/a
37	SMC3	chr3:111854748-111856584	GM12878	blood:	n/a	n/a
38	NFATC1	chr3:111854411-111856627	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:111855697..111856656-chr3:112238008..112238836,2	K562	blood:
2	chr3:111856051..111856906-chr3:112237978..112238501,2	MCF-7	breast:
3	chr3:111851024..111853542-chr3:111855899..111858560,2	K562	blood:

Variant related genes	Relation type
GCSAM	TF binding region
ENSG00000261488	Chromatin interaction
ENSG00000174500	Chromatin interaction

rs_ID	r²[population]
rs13319370	1.00[AFR][1000 genomes]
rs13434018	0.83[AFR][1000 genomes]
rs28479380	0.83[AFR][1000 genomes]
rs28480564	1.00[AFR][1000 genomes]
rs28688678	1.00[AFR][1000 genomes]
rs9827947	1.00[AFR][1000 genomes]
rs9835515	0.83[AFR][1000 genomes]
rs9843450	1.00[AFR][1000 genomes]
rs9851895	1.00[AFR][1000 genomes]
rs9866863	0.83[AFR][1000 genomes]

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111848200-111857000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:111848400-111856800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:111852200-111857000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:111852200-111857600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:111852200-111863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:111852400-111856600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr3:111852400-111856600	Flanking Active TSS	GM12878-XiMat	blood
8	chr3:111852400-111857000	Enhancers	Primary B cells from cord blood	blood
9	chr3:111852400-111857200	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:111852600-111856600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:111852600-111857600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:111852800-111856600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr3:111853200-111857000	Enhancers	Stomach Mucosa	stomach
14	chr3:111853400-111867400	Weak transcription	Gastric	stomach
15	chr3:111853600-111857000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr3:111853800-111857000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:111854200-111856800	Weak transcription	Fetal Intestine Small	intestine
18	chr3:111854200-111857000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr3:111854600-111857000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:111854600-111858000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:111854800-111857600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:111854800-111857800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:111855000-111857400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:111855000-111857600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:111855000-111858000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:111855200-111858000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr3:111855400-111856800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr3:111855400-111857000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:111855400-111857600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr3:111855400-111858000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:111855600-111856600	Enhancers	Brain Substantia Nigra	brain
32	chr3:111855600-111857000	Enhancers	Primary hematopoietic stem cells	blood
33	chr3:111855800-111857000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:111855800-111857000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr3:111855800-111857200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr3:111855800-111857200	Enhancers	Duodenum Mucosa	Duodenum
37	chr3:111856000-111856600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:111856200-111856600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr3:111856200-111856600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr3:111856200-111857800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr3:111856200-111860200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:111856200-111867400	Weak transcription	Thymus	Thymus
43	chr3:111856200-111867600	Weak transcription	Left Ventricle	heart
44	chr3:111856400-111857800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr3:111856400-111861800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr3:111856400-111862400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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