Variant report

Variant	rs7559829
Chromosome Location	chr2:37417354-37417355
allele	C/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	FOSL2	chr2:37416863-37417396	SK-N-SH	brain:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
2	POLR2A	chr2:37417038-37417397	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr2:37416957-37417370	U87	brain:	n/a	n/a
4	STAT3	chr2:37416971-37417785	MCF10A-Er-Src	breast:	n/a	chr2:37417268-37417276
5	MYC	chr2:37416594-37418025	NB4	blood:	n/a	n/a
6	KAP1	chr2:37416884-37417778	U2OS	brain:	n/a	n/a
7	MYC	chr2:37416962-37417374	MCF10A-Er-Src	breast:	n/a	n/a
8	ARID3A	chr2:37417006-37417409	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:37416553-37417370	HCT-116	colon:	n/a	n/a
10	FOXA1	chr2:37416885-37417443	HepG2	liver:	n/a	n/a
11	FOS	chr2:37416974-37417418	MCF10A-Er-Src	breast:	n/a	chr2:37417157-37417168 chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
12	SETDB1	chr2:37416893-37417602	U2OS	brain:	n/a	n/a
13	SP1	chr2:37416836-37417406	A549	lung:	n/a	n/a
14	FOS	chr2:37416973-37417367	HUVEC	blood vessel:	n/a	chr2:37417157-37417168 chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
15	FOSL2	chr2:37416649-37417418	A549	lung:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
16	JUND	chr2:37416769-37417491	H1-hESC	embryonic stem cell:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417157-37417168 chr2:37417158-37417169 chr2:37417160-37417171
17	CEBPB	chr2:37416901-37417806	Hela-S3	cervix:	n/a	n/a
18	FOXA2	chr2:37416892-37417405	A549	lung:	n/a	n/a
19	STAT3	chr2:37416971-37417786	MCF10A-Er-Src	breast:	n/a	chr2:37417268-37417276
20	FOSL2	chr2:37416806-37417376	HepG2	liver:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
21	JUND	chr2:37416963-37417727	K562	blood:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417157-37417168 chr2:37417158-37417169 chr2:37417160-37417171
22	POLR2A	chr2:37416639-37417416	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr2:37416922-37417781	MCF10A-Er-Src	breast:	n/a	chr2:37417268-37417276
24	FOS	chr2:37416923-37417401	MCF10A-Er-Src	breast:	n/a	chr2:37417157-37417168 chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
25	MAX	chr2:37416571-37417995	NB4	blood:	n/a	n/a
26	POLR2A	chr2:37416498-37417358	HCT-116	colon:	n/a	n/a
27	KAP1	chr2:37416891-37417357	HEK293	kidney:	n/a	n/a
28	STAT3	chr2:37416952-37417818	MCF10A-Er-Src	breast:	n/a	chr2:37417268-37417276
29	POLR2A	chr2:37416990-37417370	U87	brain:	n/a	n/a
30	JUND	chr2:37416877-37417516	SK-N-SH	brain:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417157-37417168 chr2:37417158-37417169 chr2:37417160-37417171

No.	Distal block	Cell Line	Cell type
1	chr2:37416928..37419854-chr2:37422137..37424726,5	K562	blood:
2	chr2:37417209..37421178-chr2:37422730..37425028,3	MCF-7	breast:
3	chr2:37413518..37417531-chr2:37457528..37460316,5	MCF-7	breast:
4	chr2:37414854..37419854-chr2:37421416..37424726,5	K562	blood:

Variant related genes	Relation type
SULT6B1	TF binding region
ENSG00000138068	Chromatin interaction
ENSG00000233159	Chromatin interaction
ENSG00000115816	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000218739	Chromatin interaction

rs_ID	r²[population]
rs11569750	1.00[EUR][1000 genomes]
rs11569752	1.00[EUR][1000 genomes]
rs2111629	1.00[EUR][1000 genomes]
rs45493492	1.00[EUR][1000 genomes]
rs45552433	1.00[EUR][1000 genomes]
rs45626240	1.00[EUR][1000 genomes]
rs7557159	1.00[ASW][hapmap];0.83[LWK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37416200-37417400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr2:37416200-37418800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr2:37416200-37420200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:37416200-37420400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:37416400-37418400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:37416400-37420400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:37416600-37417600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:37416600-37417600	Enhancers	HUVEC	blood vessel
9	chr2:37416600-37417800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:37416600-37417800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:37416600-37417800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:37416600-37417800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:37416600-37417800	Enhancers	NH-A	brain
14	chr2:37416600-37418000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:37416600-37418000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:37416600-37418000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:37416600-37418000	Enhancers	Hela-S3	cervix
18	chr2:37416600-37418000	Enhancers	HMEC	breast
19	chr2:37416600-37418000	Enhancers	NHEK	skin
20	chr2:37416600-37418200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:37416600-37418200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:37416600-37418200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:37416600-37418400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:37416600-37418400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:37416600-37418400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:37416600-37419000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:37416600-37419000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:37416600-37419200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:37416600-37419200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:37416600-37419800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:37416600-37420200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:37416600-37420200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:37416600-37420400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:37416800-37417400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:37416800-37417400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:37416800-37417400	Flanking Active TSS	A549	lung
37	chr2:37416800-37417400	Enhancers	Osteobl	bone
38	chr2:37416800-37417800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:37416800-37417800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:37416800-37417800	Enhancers	NHLF	lung
41	chr2:37416800-37418000	Enhancers	K562	blood
42	chr2:37416800-37418600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:37416800-37419000	Weak transcription	Esophagus	oesophagus
44	chr2:37416800-37420200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:37416800-37423200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:37417000-37417400	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:37417000-37418000	Enhancers	HepG2	liver
48	chr2:37417000-37418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:37417000-37418800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:37417000-37419200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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