Variant report

Variant	rs784385
Chromosome Location	chr1:211571003-211571004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211565165..211567494-chr1:211569278..211571043,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10449313	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1055565	0.96[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1084981	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863888	0.91[CEU][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10863895	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11580084	0.84[ASW][hapmap];0.91[CEU][hapmap];0.89[LWK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs12027724	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs12116749	0.91[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs12118279	0.83[MEX][hapmap]
rs1533217	0.87[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1663522	0.96[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1777827	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2063569	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2798559	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2920908	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2920911	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3002258	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3738199	0.91[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3767377	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs3767378	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs4406705	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs4951520	0.84[ASW][hapmap];0.91[CEU][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs4951523	0.91[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4951741	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4951742	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6667740	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6696938	0.80[EUR][1000 genomes]
rs6700747	0.83[MEX][hapmap]
rs6703361	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7520989	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs7538692	0.81[EUR][1000 genomes]
rs7550702	0.91[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs784369	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs784379	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs784382	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784383	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784389	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	esv1824154	chr1:211565640-211614280	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs784385	C1orf74	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211556800-211585800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:211556800-211589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:211557000-211571400	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:211557000-211572400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:211557000-211573200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:211557000-211575000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:211557000-211576600	Weak transcription	Left Ventricle	heart
8	chr1:211557000-211580600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:211557000-211581000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:211557000-211581800	Weak transcription	Fetal Kidney	kidney
11	chr1:211557200-211572800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:211557200-211573400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:211557400-211571400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:211557400-211571400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:211557400-211571600	Weak transcription	Fetal Heart	heart
16	chr1:211557400-211572800	Weak transcription	Fetal Intestine Large	intestine
17	chr1:211557400-211572800	Weak transcription	K562	blood
18	chr1:211557400-211574400	Weak transcription	Brain Substantia Nigra	brain
19	chr1:211557400-211574400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:211557400-211575600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:211557400-211576000	Weak transcription	Fetal Intestine Small	intestine
22	chr1:211557600-211571400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:211557600-211573400	Weak transcription	GM12878-XiMat	blood
24	chr1:211557600-211573400	Weak transcription	Hela-S3	cervix
25	chr1:211557600-211576200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:211560800-211571400	Weak transcription	HSMMtube	muscle
27	chr1:211561600-211573000	Weak transcription	Right Ventricle	heart
28	chr1:211563400-211572000	Weak transcription	Primary T cells from cord blood	blood
29	chr1:211564400-211571400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:211565200-211573000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:211565600-211574000	Strong transcription	Liver	Liver
32	chr1:211566000-211571400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:211566200-211572800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:211566800-211572000	Weak transcription	Colonic Mucosa	Colon
35	chr1:211566800-211574600	Weak transcription	Pancreas	Pancrea
36	chr1:211566800-211574800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:211566800-211576800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:211567000-211574600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:211567000-211581600	Weak transcription	Gastric	stomach
40	chr1:211567600-211571200	Weak transcription	Aorta	Aorta
41	chr1:211568200-211573400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:211568200-211575000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:211568400-211571800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:211568400-211572000	Weak transcription	Fetal Stomach	stomach
45	chr1:211568400-211573000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:211568600-211573600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:211568800-211572200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:211569000-211572000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:211569000-211576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:211569600-211572600	Weak transcription	Placenta	Placenta

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