Variant report

Variant	rs6700747
Chromosome Location	chr1:211431105-211431106
allele	A/C
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	MAFK	chr1:211430859-211432505	K562	blood:	n/a	chr1:211431508-211431525
2	MAFK	chr1:211430814-211431147	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:211430686-211433120	K562	blood:	n/a	n/a
4	CTCF	chr1:211431085-211431242	K562	blood:	n/a	n/a
5	JUN	chr1:211430435-211433224	K562	blood:	n/a	chr1:211432319-211432328 chr1:211432316-211432325
6	POLR2A	chr1:211430347-211433230	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:211430790-211434558	K562	blood:	n/a	n/a
8	POLR2A	chr1:211430683-211431147	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr1:211430667-211431358	HepG2	liver:	n/a	n/a
10	HEY1	chr1:211430624-211431108	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:211430884-211431124	K562	blood:	n/a	n/a
12	POLR2A	chr1:211430635-211433337	K562	blood:	n/a	n/a
13	NFIC	chr1:211431072-211432969	SK-N-SH	brain:	n/a	chr1:211431342-211431359
14	POLR2A	chr1:211430295-211434862	K562	blood:	n/a	n/a
15	POLR2A	chr1:211430530-211433111	MCF10A-Er-Src	breast:	n/a	n/a
16	MAZ	chr1:211431094-211434750	IMR90	lung:	n/a	chr1:211432409-211432419 chr1:211433819-211433829 chr1:211432314-211432324
17	CHD1	chr1:211430767-211432510	H1-hESC	embryonic stem cell:	n/a	chr1:211432325-211432335
18	ZNF143	chr1:211430921-211432889	K562	blood:	n/a	chr1:211432558-211432576
19	BACH1	chr1:211430852-211431194	K562	blood:	n/a	n/a
20	MAFF	chr1:211430840-211431181	K562	blood:	n/a	n/a
21	POLR2A	chr1:211430588-211431120	H1-hESC	embryonic stem cell:	n/a	n/a
22	IRF1	chr1:211430782-211433083	K562	blood:	n/a	chr1:211432540-211432554 chr1:211432545-211432559 chr1:211431840-211431854
23	MYC	chr1:211430788-211431127	K562	blood:	n/a	n/a
24	POLR2A	chr1:211430869-211431107	K562	blood:	n/a	n/a
25	TBL1XR1	chr1:211430722-211432763	K562	blood:	n/a	n/a
26	POLR2A	chr1:211430587-211431121	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:210543442..210549646-chr1:211430130..211435518,10	MCF-7	breast:
2	chr1:211429664..211434083-chr1:211498779..211503937,6	K562	blood:
3	chr1:211430859..211434419-chr1:211555069..211558654,5	K562	blood:
4	chr1:211429664..211435180-chr1:211498779..211503937,6	K562	blood:
5	chr1:211429991..211432106-chr1:211750411..211752434,2	MCF-7	breast:

Variant related genes	Relation type
RCOR3	TF binding region
ENSG00000153363	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000082512	Chromatin interaction
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1055565	0.81[CEU][hapmap]
rs10779552	0.89[EUR][1000 genomes]
rs10779553	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1084981	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs10863882	0.81[ASN][1000 genomes]
rs10863883	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863884	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10863888	0.81[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap]
rs11119716	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11580084	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.88[MKK][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11811405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12027724	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12116749	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12118279	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12403576	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12744021	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1533217	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1663522	0.81[CEU][hapmap]
rs2095753	0.81[ASN][1000 genomes]
rs3111246	0.81[ASN][1000 genomes]
rs3111252	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3111255	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3111257	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3111258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3120782	0.85[ASN][1000 genomes]
rs3120789	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3125854	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35426013	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738199	0.85[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap]
rs3767377	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3767378	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4131375	0.82[ASN][1000 genomes]
rs4366377	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4406705	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4951520	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.94[ASN][1000 genomes]
rs4951523	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap]
rs4951736	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6689078	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6696938	0.91[ASN][1000 genomes]
rs6702366	0.85[ASN][1000 genomes]
rs7520989	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7538692	0.94[ASN][1000 genomes]
rs7538812	0.82[ASN][1000 genomes]
rs7550702	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap]
rs784379	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs784382	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs784385	0.83[MEX][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6700747	C1orf74	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211429400-211431200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:211429400-211431200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:211429800-211431200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:211430200-211431200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:211430200-211431200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:211430200-211431400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:211430200-211431400	Enhancers	Placenta	Placenta
8	chr1:211430400-211431200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:211430400-211431200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:211430400-211431200	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:211430400-211431200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:211430400-211431200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr1:211430400-211431200	Enhancers	Fetal Brain Male	brain
14	chr1:211430400-211431200	Enhancers	Fetal Muscle Leg	muscle
15	chr1:211430400-211431200	Enhancers	Left Ventricle	heart
16	chr1:211430400-211431200	Enhancers	Lung	lung
17	chr1:211430400-211431200	Enhancers	Stomach Mucosa	stomach
18	chr1:211430400-211431600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:211430400-211431600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr1:211430400-211431600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:211430400-211431600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:211430600-211431200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:211430600-211431200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:211430600-211431200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:211430600-211431200	Enhancers	Brain Cingulate Gyrus	brain
26	chr1:211430600-211431200	Enhancers	Brain Substantia Nigra	brain
27	chr1:211430600-211431200	Active TSS	Fetal Brain Female	brain
28	chr1:211430600-211431200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:211430600-211431200	Enhancers	Dnd41	blood
30	chr1:211430600-211431200	Flanking Active TSS	K562	blood
31	chr1:211430600-211431200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr1:211430600-211431400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:211430600-211431400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:211430600-211431400	Enhancers	Brain Angular Gyrus	brain
35	chr1:211430600-211431400	Flanking Active TSS	Fetal Lung	lung
36	chr1:211430600-211431400	Enhancers	Fetal Thymus	thymus
37	chr1:211430600-211431600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:211430600-211431600	Flanking Active TSS	A549	lung
39	chr1:211430600-211431600	Flanking Active TSS	NHEK	skin
40	chr1:211430600-211431800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr1:211430600-211432200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:211430600-211432200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr1:211430600-211434600	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr1:211430600-211434600	Active TSS	H1 Cell Line	embryonic stem cell
45	chr1:211430800-211431200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:211430800-211431200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:211430800-211431200	Enhancers	Liver	Liver
48	chr1:211430800-211431200	Enhancers	Brain Hippocampus Middle	brain
49	chr1:211430800-211431200	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr1:211430800-211431200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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