Variant report

Variant	rs6787804
Chromosome Location	chr3:48964772-48964773
allele	A/C
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	PBX3	chr3:48964358-48964922	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr3:48964367-48964868	SK-N-SH	brain:	n/a	chr3:48964555-48964562 chr3:48964656-48964664
3	PBX3	chr3:48964458-48964800	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr3:48964689-48964886	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:48964532..48967407-chr3:49057327..49061980,4	K562	blood:
2	chr3:48956190..48958160-chr3:48963848..48966266,2	MCF-7	breast:
3	chr3:48956178..48958930-chr3:48964681..48967359,2	MCF-7	breast:

Variant related genes	Relation type
ARIH2	TF binding region
ENSG00000221883	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000199032	Chromatin interaction
ENSG00000207605	Chromatin interaction
ENSG00000177479	Chromatin interaction
ENSG00000178149	Chromatin interaction

rs_ID	r²[population]
rs6776679	1.00[AMR][1000 genomes]
rs6780307	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7434187	1.00[YRI][hapmap]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48957200-48965000	Weak transcription	Small Intestine	intestine
2	chr3:48957400-49003800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:48957600-48965000	Weak transcription	Fetal Kidney	kidney
4	chr3:48957600-48974400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:48957800-48965000	Weak transcription	Right Ventricle	heart
6	chr3:48958000-48965000	Weak transcription	Fetal Brain Male	brain
7	chr3:48958800-48965400	Strong transcription	Fetal Intestine Small	intestine
8	chr3:48959000-48965200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:48959000-48965200	Strong transcription	Fetal Stomach	stomach
10	chr3:48959000-48968400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:48959000-48971600	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:48959000-48974000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:48959000-48976000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:48959000-48976200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:48959200-48964800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:48959200-48965000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr3:48959200-48968200	Strong transcription	Thymus	Thymus
18	chr3:48959200-48971000	Strong transcription	Fetal Muscle Leg	muscle
19	chr3:48959200-48973600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:48959400-48965400	Strong transcription	Brain Germinal Matrix	brain
21	chr3:48959400-48968200	Strong transcription	Fetal Intestine Large	intestine
22	chr3:48959400-48976200	Strong transcription	Fetal Thymus	thymus
23	chr3:48959600-48967200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:48959600-48975800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:48959800-48968200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:48960000-48964800	Weak transcription	Right Atrium	heart
27	chr3:48960000-48966600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr3:48960000-48970000	Weak transcription	Pancreas	Pancrea
29	chr3:48960800-48967400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:48960800-48967400	Strong transcription	Fetal Brain Female	brain
31	chr3:48961000-48965200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:48961400-48968200	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr3:48961800-48964800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:48962000-48970000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:48962000-49000400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:48962400-48964800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:48962400-48966800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr3:48962600-48966000	Strong transcription	Primary B cells from cord blood	blood
39	chr3:48962800-48967400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:48962800-48967400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr3:48962800-48968200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:48963000-48965000	Strong transcription	Lung	lung
43	chr3:48963000-48968400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:48963200-48965200	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr3:48963200-48967000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:48963200-48967400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
47	chr3:48963400-48965000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr3:48963400-48966800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr3:48963400-48967000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:48963400-48967600	Genic enhancers	Hela-S3	cervix

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