Variant report

Variant	rs7842
Chromosome Location	chr12:8211187-8211188
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	chr12:8185362..8188149-chr12:8209815..8211810,2	K562	blood:
2	chr12:8209418..8211639-chr12:8218119..8220540,2	K562	blood:

Variant related genes	Relation type
ENSG00000065970	Chromatin interaction
ENSG00000171860	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11567780	0.86[EUR][1000 genomes]
rs1966409	0.85[EUR][1000 genomes]
rs35949673	0.85[EUR][1000 genomes]
rs73063361	0.84[EUR][1000 genomes]
rs7954916	0.91[CEU][hapmap];0.86[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7842	C3AR1	cis	Whole Blood	GTEx
rs7842	SGCE	trans	lymphoblastoid	seeQTL
rs7842	IFFO1	cis	cerebellum	SCAN
rs7842	KLRD1	cis	parietal	SCAN
rs7842	FOXJ2	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8192600-8212400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:8201000-8211200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:8201000-8211600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:8202600-8211200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:8203000-8218800	Weak transcription	HMEC	breast
6	chr12:8203400-8217400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:8205600-8211400	Weak transcription	HUVEC	blood vessel
8	chr12:8205600-8212400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:8205600-8214200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:8205600-8218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:8205600-8218800	Weak transcription	Hela-S3	cervix
12	chr12:8206000-8214000	Weak transcription	Pancreas	Pancrea
13	chr12:8206000-8221600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:8206200-8217200	Weak transcription	K562	blood
15	chr12:8206200-8218800	Weak transcription	NH-A	brain
16	chr12:8206600-8212200	Weak transcription	Spleen	Spleen
17	chr12:8206600-8216800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:8206800-8211200	Weak transcription	Small Intestine	intestine
19	chr12:8206800-8218400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:8207600-8211400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:8207600-8215400	Weak transcription	Colonic Mucosa	Colon
22	chr12:8207600-8217200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:8207600-8217800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:8207600-8218800	Weak transcription	NHDF-Ad	bronchial
25	chr12:8207800-8212200	Weak transcription	Lung	lung
26	chr12:8207800-8217000	Weak transcription	Placenta	Placenta
27	chr12:8207800-8218000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:8207800-8218400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:8207800-8221400	Weak transcription	Brain Substantia Nigra	brain
30	chr12:8208000-8211200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:8208000-8212200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:8208000-8214000	Weak transcription	Gastric	stomach
33	chr12:8208000-8217400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:8208000-8217400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:8208000-8218400	Weak transcription	GM12878-XiMat	blood
36	chr12:8208000-8218800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:8208000-8218800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:8208000-8218800	Weak transcription	Thymus	Thymus
39	chr12:8208200-8216400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:8208200-8218400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:8208200-8218800	Weak transcription	Fetal Thymus	thymus
42	chr12:8208400-8211400	Weak transcription	Brain Anterior Caudate	brain
43	chr12:8208400-8211400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:8208400-8212200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:8208400-8212200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:8208400-8214000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:8208400-8216400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:8208400-8216600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:8208400-8216800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:8208400-8217400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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