Variant report

Variant	rs12169637
Chromosome Location	chr22:33279447-33279448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33277550..33279895-chr22:33281919..33283776,2	K562	blood:
2	22:32920308-32927723..22:33273392-33279610	K562	blood:
3	chr22:33277494..33279713-chr22:33299469..33301691,2	K562	blood:
4	22:32292186-32294405..22:33273392-33279610	K562	blood:
5	chr22:33258265..33260703-chr22:33277216..33279656,2	K562	blood:

Variant related genes	Relation type
ENSG00000100150	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1010432	0.83[YRI][hapmap]
rs137499	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs137504	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs137507	0.85[MKK][hapmap]
rs137512	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs137518	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs137525	0.88[MKK][hapmap]
rs137537	0.91[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.87[ASN][1000 genomes]
rs137540	0.87[ASN][1000 genomes]
rs137550	0.82[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2016169	0.86[GIH][hapmap];0.92[YRI][hapmap]
rs9606997	0.92[YRI][hapmap]
rs9609651	0.92[YRI][hapmap]
rs9609652	0.86[GIH][hapmap];0.92[YRI][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12169637	RHBDD3	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33237400-33282200	Weak transcription	Fetal Brain Female	brain
2	chr22:33257800-33282000	Weak transcription	HepG2	liver
3	chr22:33265200-33282000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr22:33265600-33287000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:33270800-33287200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:33274200-33286200	Enhancers	Fetal Heart	heart
7	chr22:33275000-33280200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:33275400-33279600	Enhancers	Primary hematopoietic stem cells	blood
9	chr22:33275400-33279600	Enhancers	Fetal Muscle Leg	muscle
10	chr22:33275400-33285400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr22:33275800-33284000	Enhancers	Fetal Stomach	stomach
12	chr22:33276000-33279600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr22:33277000-33284800	Weak transcription	Ovary	ovary
14	chr22:33277000-33302000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:33277600-33280000	Enhancers	Fetal Thymus	thymus
16	chr22:33277600-33282800	Weak transcription	Right Atrium	heart
17	chr22:33277600-33283800	Weak transcription	HSMMtube	muscle
18	chr22:33277600-33285000	Weak transcription	Left Ventricle	heart
19	chr22:33278200-33283400	Weak transcription	Right Ventricle	heart
20	chr22:33278600-33279800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:33278600-33280000	Enhancers	K562	blood
22	chr22:33279000-33281400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr22:33279200-33280000	Weak transcription	Fetal Brain Male	brain
24	chr22:33279400-33280000	Enhancers	Fetal Kidney	kidney
25	chr22:33279400-33282800	Weak transcription	Placenta	Placenta

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