Variant report

Variant	rs7743249
Chromosome Location	chr6:44072863-44072864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44067796..44070621-chr6:44070838..44073227,2	K562	blood:
2	chr6:44067430..44069915-chr6:44071632..44073899,2	MCF-7	breast:
3	chr6:44068135..44073086-chr6:44213618..44216207,4	K562	blood:
4	chr6:44064491..44067269-chr6:44068919..44074061,5	MCF-7	breast:
5	chr6:44072715..44074361-chr6:44086562..44088391,2	K562	blood:
6	chr6:44072850..44074417-chr6:44075167..44077237,2	MCF-7	breast:
7	chr6:44071581..44074367-chr6:44093674..44095187,2	K562	blood:
8	chr6:44069394..44072990-chr6:44213138..44216186,3	K562	blood:
9	chr6:44069757..44072959-chr6:44076120..44079069,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137216	Chromatin interaction
ENSG00000096384	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10085205	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12526930	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2015676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2396166	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4334980	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4445056	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55772024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6922473	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7769540	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9472209	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7743249	MRPL14	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44055800-44076000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:44055800-44078800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:44056200-44078400	Weak transcription	Fetal Kidney	kidney
4	chr6:44058800-44093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:44059600-44079000	Weak transcription	Small Intestine	intestine
6	chr6:44063200-44076000	Weak transcription	Colonic Mucosa	Colon
7	chr6:44064600-44077600	Weak transcription	Stomach Mucosa	stomach
8	chr6:44065200-44073600	Weak transcription	Pancreas	Pancrea
9	chr6:44065400-44077200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:44066000-44081400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:44066000-44091000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:44066400-44082200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:44066800-44079400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:44067000-44077200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:44067000-44084200	Strong transcription	Brain Germinal Matrix	brain
16	chr6:44067000-44084400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:44067200-44085000	Strong transcription	Dnd41	blood
18	chr6:44067600-44073600	Strong transcription	NHLF	lung
19	chr6:44067600-44079600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:44068400-44075800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:44068600-44077400	Strong transcription	Fetal Intestine Small	intestine
22	chr6:44069000-44078600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:44070000-44083200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:44070400-44084000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:44070600-44073000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
26	chr6:44070600-44084000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:44070800-44079600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:44070800-44084200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr6:44071000-44075200	Genic enhancers	Placenta	Placenta
30	chr6:44071000-44081600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:44071000-44084600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:44071200-44073000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:44071200-44073000	Strong transcription	Brain Cingulate Gyrus	brain
34	chr6:44071200-44073200	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr6:44071200-44073200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:44071200-44073200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr6:44071200-44074600	Genic enhancers	Fetal Muscle Leg	muscle
38	chr6:44071200-44076400	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr6:44071200-44077400	Strong transcription	Fetal Intestine Large	intestine
40	chr6:44071200-44080000	Strong transcription	Gastric	stomach
41	chr6:44071200-44083400	Strong transcription	Fetal Thymus	thymus
42	chr6:44071200-44084200	Strong transcription	Fetal Brain Female	brain
43	chr6:44071200-44084600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr6:44071200-44084600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr6:44071200-44086400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:44071400-44073200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:44071400-44073200	Strong transcription	NHEK	skin
48	chr6:44071400-44073600	Strong transcription	HepG2	liver
49	chr6:44071400-44073800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr6:44071400-44074200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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