Variant report

Variant	rs9394987
Chromosome Location	chr6:44124954-44124955
allele	C/T
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	HNF4A	chr6:44124108-44124997	HepG2	liver:	n/a	chr6:44124358-44124373 chr6:44124953-44124975
2	MAFK	chr6:44124762-44125039	HepG2	liver:	n/a	n/a
3	MAZ	chr6:44124230-44125076	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:44124138-44125179	HepG2	liver:	n/a	n/a
5	EP300	chr6:44124138-44125021	HepG2	liver:	n/a	chr6:44124222-44124236
6	HEY1	chr6:44123985-44124962	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:44124113-44125098	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:44124007-44124968	PANC-1	pancreas:	n/a	n/a
9	CTCF	chr6:44124885-44125230	K562	blood:	n/a	chr6:44125094-44125107
10	CTCF	chr6:44124940-44125090	HCPEpiC	choroid plexus:	n/a	n/a
11	FOSL2	chr6:44123985-44125222	HepG2	liver:	n/a	chr6:44124723-44124737 chr6:44124048-44124059
12	ZBTB7A	chr6:44124163-44125125	HepG2	liver:	n/a	n/a
13	SMC3	chr6:44124154-44125177	HepG2	liver:	n/a	chr6:44124578-44124586
14	RAD21	chr6:44124897-44125221	HepG2	liver:	n/a	chr6:44125097-44125107 chr6:44125095-44125108
15	POLR2A	chr6:44124034-44125158	K562	blood:	n/a	n/a
16	SPI1	chr6:44124897-44125207	HL-60	blood:	n/a	chr6:44125043-44125056 chr6:44125079-44125092 chr6:44125080-44125093
17	CTCF	chr6:44124900-44125050	BE2_C	brain:	n/a	n/a
18	EP300	chr6:44123999-44125166	HepG2	liver:	n/a	chr6:44124222-44124236 chr6:44125081-44125090
19	MYBL2	chr6:44123907-44125303	HepG2	liver:	n/a	n/a
20	TEAD4	chr6:44123886-44125164	HepG2	liver:	n/a	n/a
21	POLR2A	chr6:44123943-44125152	HepG2	liver:	n/a	n/a
22	MAX	chr6:44123951-44125117	HepG2	liver:	n/a	n/a
23	CTCF	chr6:44124935-44125223	HepG2	liver:	n/a	chr6:44125094-44125107
24	MXI1	chr6:44124071-44124962	HepG2	liver:	n/a	n/a
25	CEBPB	chr6:44124205-44125683	HepG2	liver:	n/a	chr6:44124521-44124532
26	POLR2A	chr6:44124176-44125173	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:44123962-44124993	K562	blood:	n/a	n/a
28	SPI1	chr6:44124912-44125174	K562	blood:	n/a	chr6:44125043-44125056 chr6:44125079-44125092 chr6:44125080-44125093
29	RCOR1	chr6:44124217-44125158	HepG2	liver:	n/a	n/a
30	SPI1	chr6:44124908-44125158	K562	blood:	n/a	chr6:44125043-44125056 chr6:44125079-44125092 chr6:44125080-44125093
31	POLR2A	chr6:44124107-44125036	HepG2	liver:	n/a	n/a
32	MBD4	chr6:44123953-44125183	HepG2	liver:	n/a	n/a
33	MBD4	chr6:44124003-44125119	HepG2	liver:	n/a	n/a
34	CTCF	chr6:44124940-44125090	HA-sp	spinal cord:	n/a	n/a
35	HDAC2	chr6:44124034-44125033	HepG2	liver:	n/a	chr6:44124797-44124811 chr6:44124365-44124373
36	ZBTB7A	chr6:44124915-44125129	HepG2	liver:	n/a	n/a
37	MYBL2	chr6:44123943-44125083	HepG2	liver:	n/a	n/a
38	SPI1	chr6:44124906-44125144	GM12878	blood:	n/a	chr6:44125043-44125056 chr6:44125079-44125092 chr6:44125080-44125093
39	NFIC	chr6:44124008-44125174	HepG2	liver:	n/a	n/a
40	FOXA2	chr6:44124069-44124983	HepG2	liver:	n/a	n/a
41	POLR2A	chr6:44124564-44125009	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr6:44123799-44125415	HepG2	liver:	n/a	n/a
43	POLR2A	chr6:44124546-44125149	GM12891	blood:	n/a	n/a
44	SPI1	chr6:44124868-44125167	GM12891	blood:	n/a	chr6:44125043-44125056 chr6:44125079-44125092 chr6:44125080-44125093
45	SPI1	chr6:44124898-44125208	GM12891	blood:	n/a	chr6:44125043-44125056 chr6:44125079-44125092 chr6:44125080-44125093

No.	Distal block	Cell Line	Cell type
1	chr6:44120702..44122564-chr6:44124871..44126375,2	MCF-7	breast:
2	chr6:44059411..44061109-chr6:44123433..44125629,2	MCF-7	breast:
3	chr6:44123243..44125562-chr6:44129516..44131201,2	K562	blood:
4	chr6:44124294..44127284-chr6:44213791..44216257,3	MCF-7	breast:
5	chr6:44117982..44119936-chr6:44124617..44126321,2	MCF-7	breast:
6	chr6:44123017..44125201-chr6:44128032..44129588,2	MCF-7	breast:
7	chr6:44122736..44127198-chr6:44213713..44218106,8	K562	blood:
8	chr6:44123357..44125146-chr6:44203946..44206894,2	K562	blood:
9	chr6:44064455..44066858-chr6:44120767..44125089,3	MCF-7	breast:

Variant related genes	Relation type
CAPN11	TF binding region
ENSG00000096384	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1041523	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3734694	0.90[ASN][1000 genomes]
rs4711769	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4714757	0.87[ASN][1000 genomes]
rs4714758	0.90[ASN][1000 genomes]
rs6458370	0.88[ASN][1000 genomes]
rs6911630	0.90[ASN][1000 genomes]
rs6934989	0.90[ASN][1000 genomes]
rs9296427	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9394987	MRPL14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44114000-44129400	Weak transcription	NHDF-Ad	bronchial
2	chr6:44114200-44128400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:44114200-44129200	Weak transcription	NH-A	brain
4	chr6:44115200-44129400	Weak transcription	Hela-S3	cervix
5	chr6:44115600-44128400	Weak transcription	Dnd41	blood
6	chr6:44117200-44131200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:44117400-44129200	Weak transcription	HSMM	muscle
8	chr6:44117600-44129400	Weak transcription	HSMMtube	muscle
9	chr6:44117800-44130800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:44118000-44125000	Weak transcription	Brain Substantia Nigra	brain
11	chr6:44118000-44126200	Weak transcription	Fetal Lung	lung
12	chr6:44118200-44129000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:44118600-44130600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:44118800-44126800	Weak transcription	Primary T cells from cord blood	blood
15	chr6:44119800-44128400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:44119800-44128600	Weak transcription	GM12878-XiMat	blood
17	chr6:44119800-44130800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:44119800-44140600	Weak transcription	Right Atrium	heart
19	chr6:44120200-44125000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:44121000-44129200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:44121000-44129200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:44121000-44129200	Weak transcription	Osteobl	bone
23	chr6:44121600-44126600	Weak transcription	Right Ventricle	heart
24	chr6:44121800-44126400	Enhancers	Stomach Mucosa	stomach
25	chr6:44121800-44129200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:44122000-44125000	Enhancers	Thymus	Thymus
27	chr6:44122000-44125800	Weak transcription	Spleen	Spleen
28	chr6:44122000-44126800	Enhancers	Fetal Thymus	thymus
29	chr6:44122200-44125000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr6:44122200-44128600	Weak transcription	HMEC	breast
31	chr6:44122400-44125200	Weak transcription	NHLF	lung
32	chr6:44122400-44128000	Weak transcription	Fetal Brain Female	brain
33	chr6:44122400-44128400	Weak transcription	NHEK	skin
34	chr6:44122600-44125000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:44122600-44125000	Genic enhancers	Fetal Intestine Small	intestine
36	chr6:44122600-44125800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:44122600-44126000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:44122600-44126400	Weak transcription	Colonic Mucosa	Colon
39	chr6:44122600-44127800	Weak transcription	Brain Germinal Matrix	brain
40	chr6:44123000-44126200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:44123200-44125000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr6:44123200-44125000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:44123200-44127400	Enhancers	Pancreas	Pancrea
44	chr6:44123600-44125200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr6:44123600-44125200	Flanking Active TSS	HepG2	liver
46	chr6:44123600-44126600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:44123800-44128600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:44124000-44125000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:44124000-44125000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr6:44124000-44125000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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