Variant report

Variant	rs3782683
Chromosome Location	chr12:8191911-8191912
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:8183829..8185569-chr12:8189686..8192591,2	K562	blood:
2	chr12:8188281..8192732-chr12:8193522..8196171,4	K562	blood:
3	chr12:8189586..8192234-chr12:8230888..8234565,4	K562	blood:
4	chr12:8190238..8192234-chr12:8232892..8234832,2	K562	blood:
5	chr12:8184049..8188047-chr12:8189263..8193320,7	MCF-7	breast:
6	chr12:8189818..8192986-chr12:8193522..8196804,4	K562	blood:

Variant related genes	Relation type
ENSG00000065970	Chromatin interaction
ENSG00000089818	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10846411	0.80[CHB][hapmap];0.86[GIH][hapmap]
rs11057002	0.99[EUR][1000 genomes]
rs12321718	0.87[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2072449	0.86[GIH][hapmap]
rs2277414	0.95[CEU][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3782680	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.86[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4883478	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7963588	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7970274	1.00[CEU][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription 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 miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1797934	chr12:7985460-8214261	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS 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	82 gene(s)	inside rSNPs	diseases
9	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3782683	C1S	cis	parietal	SCAN
rs3782683	LOC171220	cis	cerebellum	SCAN
rs3782683	CD163	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8186600-8192800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:8186800-8192200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:8187000-8192000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:8187200-8192000	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:8187200-8192000	Enhancers	Liver	Liver
6	chr12:8187600-8192600	Genic enhancers	Fetal Muscle Leg	muscle
7	chr12:8187800-8192000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:8188000-8192200	Enhancers	Stomach Mucosa	stomach
9	chr12:8189800-8192000	Genic enhancers	Fetal Stomach	stomach
10	chr12:8190000-8192000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:8190000-8192000	Flanking Active TSS	Fetal Heart	heart
12	chr12:8190000-8192000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr12:8190200-8192000	Enhancers	Primary hematopoietic stem cells	blood
14	chr12:8190400-8192000	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr12:8190600-8192000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:8190600-8192000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:8190600-8192000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr12:8190800-8192000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr12:8190800-8192000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr12:8190800-8192000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:8190800-8192000	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr12:8190800-8192000	Enhancers	HSMMtube	muscle
23	chr12:8190800-8192000	Flanking Active TSS	NHDF-Ad	bronchial
24	chr12:8191000-8192000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr12:8191000-8192000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:8191000-8192000	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr12:8191000-8192000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr12:8191200-8192000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr12:8191200-8192000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:8191200-8192000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr12:8191200-8192000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr12:8191200-8192000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr12:8191200-8192000	Flanking Active TSS	K562	blood
34	chr12:8191400-8192000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:8191400-8200400	Weak transcription	Small Intestine	intestine
36	chr12:8191600-8192000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr12:8191600-8192000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr12:8191600-8192000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:8191600-8192000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:8191600-8192000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:8191600-8192000	Enhancers	Brain Hippocampus Middle	brain
42	chr12:8191600-8192000	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr12:8191600-8192000	Enhancers	Fetal Thymus	thymus
44	chr12:8191600-8192000	Enhancers	Psoas Muscle	Psoas
45	chr12:8191600-8192000	Flanking Active TSS	Right Ventricle	heart
46	chr12:8191600-8192000	Enhancers	HSMM	muscle
47	chr12:8191600-8192000	Flanking Active TSS	Osteobl	bone
48	chr12:8191600-8192200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:8191600-8192200	Weak transcription	Placenta	Placenta
50	chr12:8191600-8192200	Enhancers	Thymus	Thymus

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