Variant report

Variant	rs6671747
Chromosome Location	chr1:150255515-150255516
allele	A/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	POLR2A	chr1:150253538-150255531	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr1:150253414-150255748	IMR90	lung:	n/a	n/a
3	POLR2A	chr1:150254140-150255558	H1-neurons	neurons:	n/a	n/a
4	SP1	chr1:150254287-150255531	H1-hESC	embryonic stem cell:	n/a	chr1:150254925-150254939 chr1:150254928-150254940 chr1:150254947-150254958 chr1:150254929-150254938 chr1:150254930-150254939 chr1:150254853-150254874 chr1:150254928-150254940 chr1:150254788-150254795 chr1:150254919-150254933 chr1:150254930-150254939 chr1:150254929-150254939 chr1:150254929-150254939 chr1:150254928-150254939 chr1:150255181-150255195
5	MAZ	chr1:150253610-150255847	IMR90	lung:	n/a	chr1:150254466-150254475 chr1:150255121-150255132 chr1:150254829-150254848 chr1:150254467-150254474 chr1:150254834-150254843 chr1:150255120-150255133 chr1:150255122-150255131 chr1:150254468-150254484 chr1:150254836-150254843
6	TAF1	chr1:150254234-150255560	H1-neurons	neurons:	n/a	n/a
7	MAX	chr1:150253948-150255591	ECC-1	luminal epithelium:	n/a	chr1:150254466-150254475 chr1:150255121-150255132 chr1:150254829-150254848 chr1:150254467-150254474 chr1:150254834-150254843 chr1:150255120-150255133 chr1:150255122-150255131 chr1:150254468-150254484 chr1:150254836-150254843
8	SIN3A	chr1:150253664-150255572	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr1:150253591-150255587	MCF-7	breast:	n/a	chr1:150254466-150254475 chr1:150255121-150255132 chr1:150254829-150254848 chr1:150254467-150254474 chr1:150254834-150254843 chr1:150255120-150255133 chr1:150255122-150255131 chr1:150254468-150254484 chr1:150254836-150254843
10	SIN3AK20	chr1:150253386-150255703	MCF-7	breast:	n/a	n/a
11	REST	chr1:150253961-150255630	H1-neurons	neurons:	n/a	chr1:150254986-150254994
12	SRF	chr1:150253616-150255531	MCF-7	breast:	n/a	n/a
13	TAF1	chr1:150253688-150255530	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150255503-150255553	RPTEC	kidney:	n/a
2	chr1:150255503-150255553	HCT-116	colon:	n/a
3	chr1:150255503-150255553	AG09309	skin:	n/a
4	chr1:150255503-150255553	AG10803	skin:	n/a
5	chr1:150255503-150255553	AoSMC	blood vessel:	n/a
6	chr1:150255503-150255553	AG09319	gingival:	n/a
7	chr1:150255503-150255553	BJ	skin:	n/a
8	chr1:150255503-150255553	NH-A	brain:	n/a
9	chr1:150255503-150255553	LNCaP	prostate:	n/a
10	chr1:150255503-150255553	HPAEpiC	pulmonary alveolar:	n/a
11	chr1:150255503-150255553	HRCEpiC	kidney:	n/a
12	chr1:150255503-150255553	T-47D	breast:	n/a
13	chr1:150255503-150255553	HNPCEpiC	eye:	n/a
14	chr1:150255503-150255553	Hela-S3	cervix:	n/a
15	chr1:150255503-150255553	HepG2	liver:	n/a
16	chr1:150255503-150255553	HL-60	blood:	n/a
17	chr1:150255503-150255553	HCPEpiC	choroid plexus:	n/a
18	chr1:150255503-150255553	BE2_C	brain:	n/a
19	chr1:150255503-150255553	AG04449	skin:	fetal
20	chr1:150255503-150255553	H1-hESC	embryonic stem cell:	embryo
21	chr1:150255503-150255553	NT2-D1	testis:	n/a
22	chr1:150255503-150255553	SK-N-SH	brain:	n/a
23	chr1:150255503-150255553	HCM	heart:	n/a
24	chr1:150255503-150255553	HUVEC	blood vessel:	n/a
25	chr1:150255503-150255553	IMR90	lung:	fetal
26	chr1:150255503-150255553	GM19239	blood:	n/a
27	chr1:150255503-150255553	HRPEpiC	eye:	n/a
28	chr1:150255503-150255553	AG04450	lung:	fetal
29	chr1:150255503-150255553	ECC-1	luminal epithelium:	n/a
30	chr1:150255503-150255553	CMK	blood:	n/a
31	chr1:150255503-150255553	SAEC	small airway:	n/a
32	chr1:150255503-150255553	HMEC	breast:	n/a
33	chr1:150255503-150255553	ProgFib	skin:	n/a
34	chr1:150255503-150255553	NHBE	bronchial:	n/a
35	chr1:150255503-150255553	GM12892	blood:	n/a
36	chr1:150255503-150255553	NHDF-neo	bronchial:	n/a
37	chr1:150255503-150255553	SKMC	muscle:	n/a
38	chr1:150255503-150255553	GM06990	blood:	n/a
39	chr1:150255503-150255553	HIPEpiC	eye:	n/a
40	chr1:150255503-150255553	PFSK-1	brain:	n/a
41	chr1:150255503-150255553	SK-N-MC	brain:	n/a
42	chr1:150255503-150255553	ovcar-3	ovarian:	n/a
43	chr1:150255503-150255553	Caco-2	colon:	n/a
44	chr1:150255503-150255553	HCF	heart:	n/a
45	chr1:150255503-150255553	HAEpiC	amniotic membrane:	n/a
46	chr1:150255503-150255553	GM12891	blood:	n/a
47	chr1:150255503-150255553	PANC-1	pancreas:	n/a
48	chr1:150255503-150255553	HEK293	kidney:	embryo
49	chr1:150255503-150255553	NB4	blood:	n/a
50	chr1:150255503-150255553	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150226594..150229990-chr1:150253466..150255722,4	K562	blood:
2	chr1:144532574..144534383-chr1:150253333..150256090,2	K562	blood:
3	chr1:150254809..150257635-chr11:62608044..62609557,2	MCF-7	breast:
4	chr1:150254416..150258326-chr1:150293142..150296194,3	K562	blood:
5	chr1:150252847..150256677-chr1:150333609..150339009,8	MCF-7	breast:
6	chr1:149856618..149859874-chr1:150252392..150257192,4	MCF-7	breast:
7	chr1:149982260..149984112-chr1:150253669..150255654,2	MCF-7	breast:
8	chr1:150252171..150257673-chr1:150291650..150295636,15	MCF-7	breast:
9	chr1:150254103..150255766-chr1:150487973..150490880,2	MCF-7	breast:
10	chr1:150226746..150229990-chr1:150252728..150255652,4	K562	blood:
11	chr1:150254313..150256354-chr20:49126871..49128385,2	MCF-7	breast:
12	chr1:150253619..150256471-chr1:150290811..150295516,7	MCF-7	breast:
13	chr1:150205879..150210456-chr1:150251557..150256195,8	MCF-7	breast:
14	chr1:150232148..150235043-chr1:150254020..150257209,3	K562	blood:

Variant related genes	Relation type
C1orf51	TF binding region
C1orf51	CpG island
ENSG00000184260	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000196396	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000238526	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000271845	Chromatin interaction
ENSG00000118298	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10158314	1.00[EUR][1000 genomes]
rs10494265	1.00[EUR][1000 genomes]
rs10788868	1.00[EUR][1000 genomes]
rs13374103	1.00[EUR][1000 genomes]
rs13375753	1.00[EUR][1000 genomes]
rs1545761	1.00[EUR][1000 genomes]
rs16833591	1.00[EUR][1000 genomes]
rs16835652	1.00[EUR][1000 genomes]
rs3118123	1.00[EUR][1000 genomes]
rs56877951	1.00[EUR][1000 genomes]
rs57788184	1.00[EUR][1000 genomes]
rs57819791	1.00[EUR][1000 genomes]
rs58922427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59082627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59682561	1.00[EUR][1000 genomes]
rs59821426	1.00[EUR][1000 genomes]
rs60109648	1.00[EUR][1000 genomes]
rs60307722	1.00[EUR][1000 genomes]
rs60616215	1.00[EUR][1000 genomes]
rs6587748	1.00[EUR][1000 genomes]
rs6680474	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs6689338	1.00[EUR][1000 genomes]
rs6689495	1.00[EUR][1000 genomes]
rs73011246	1.00[EUR][1000 genomes]
rs73011248	1.00[EUR][1000 genomes]
rs73011264	1.00[EUR][1000 genomes]
rs73011271	1.00[EUR][1000 genomes]
rs73011273	1.00[EUR][1000 genomes]
rs73011380	1.00[EUR][1000 genomes]
rs73016142	1.00[EUR][1000 genomes]
rs73016148	1.00[EUR][1000 genomes]
rs74124337	1.00[EUR][1000 genomes]
rs74124339	1.00[EUR][1000 genomes]
rs7520088	1.00[EUR][1000 genomes]
rs7527755	1.00[EUR][1000 genomes]
rs7548450	1.00[EUR][1000 genomes]
rs946521	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
3	nsv1009508	chr1:150211112-150270830	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv535154	chr1:150214907-150265508	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1011223	chr1:150229205-150279380	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6671747	MRPS21	cis	multi-tissue	Pritchard

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150252600-150255600	Flanking Active TSS	Liver	Liver
2	chr1:150253400-150255600	Active TSS	Colon Smooth Muscle	Colon
3	chr1:150253400-150256000	Active TSS	Right Atrium	heart
4	chr1:150253400-150256000	Flanking Active TSS	HMEC	breast
5	chr1:150253600-150255600	Active TSS	Brain Anterior Caudate	brain
6	chr1:150253600-150255600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr1:150253600-150255600	Active TSS	NHDF-Ad	bronchial
8	chr1:150253600-150255800	Active TSS	Brain Angular Gyrus	brain
9	chr1:150253600-150256200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr1:150253600-150256200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:150253800-150255600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:150253800-150255600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:150253800-150255600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:150253800-150255600	Active TSS	Aorta	Aorta
15	chr1:150253800-150255600	Active TSS	Fetal Kidney	kidney
16	chr1:150253800-150255600	Active TSS	Ovary	ovary
17	chr1:150253800-150255600	Flanking Active TSS	Pancreas	Pancrea
18	chr1:150253800-150255600	Active TSS	Psoas Muscle	Psoas
19	chr1:150253800-150255600	Active TSS	NHLF	lung
20	chr1:150253800-150255800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:150253800-150255800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:150253800-150255800	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr1:150253800-150255800	Active TSS	Right Ventricle	heart
24	chr1:150253800-150256000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr1:150253800-150256000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr1:150253800-150256000	Active TSS	Brain Substantia Nigra	brain
27	chr1:150254000-150255600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr1:150254000-150255600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:150254000-150256000	Active TSS	Rectal Smooth Muscle	rectum
30	chr1:150254200-150255600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:150254200-150255600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr1:150254200-150255600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr1:150254200-150255800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:150254200-150255800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr1:150254400-150256000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr1:150254400-150260600	Weak transcription	K562	blood
37	chr1:150254600-150255600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:150254600-150255600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
39	chr1:150254600-150255600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:150254600-150255600	Active TSS	NH-A	brain
41	chr1:150254600-150255800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:150254600-150256000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:150254600-150256000	Active TSS	HSMM	muscle
44	chr1:150254600-150266200	Weak transcription	Small Intestine	intestine
45	chr1:150254800-150255600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr1:150255000-150255600	Bivalent Enhancer	Primary B cells from cord blood	blood
47	chr1:150255000-150255600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
48	chr1:150255000-150255600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:150255000-150255600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr1:150255000-150255800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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