Variant report

Variant	rs17768548
Chromosome Location	chr10:46052917-46052918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:46042311..46044795-chr10:46052336..46053839,2	K562	blood:
2	chr10:46049227..46053354-chr10:46053983..46058180,6	K562	blood:
3	chr10:46047681..46050727-chr10:46051442..46055483,4	K562	blood:
4	chr10:46045209..46047210-chr10:46049150..46053014,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12764555	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.90[ASN][1000 genomes]
rs35599803	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3802542	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv895111	chr10:45989745-46071900	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv895112	chr10:46012620-46202216	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv1041417	chr10:46021181-46088061	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv528750	chr10:46024620-46076235	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1052233	chr10:46024620-46088061	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1047117	chr10:46027942-46075946	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17768548	FAM21FP	cis	lung	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46010000-46056000	Weak transcription	Esophagus	oesophagus
2	chr10:46014400-46070000	Weak transcription	Psoas Muscle	Psoas
3	chr10:46026200-46057600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:46028200-46053000	Weak transcription	Ovary	ovary
5	chr10:46028200-46055600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr10:46028800-46053000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:46028800-46069200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr10:46040000-46054000	Weak transcription	Fetal Lung	lung
9	chr10:46040000-46056000	Weak transcription	Colonic Mucosa	Colon
10	chr10:46040400-46056600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:46042000-46053800	Weak transcription	Gastric	stomach
12	chr10:46042000-46062600	Weak transcription	Aorta	Aorta
13	chr10:46042200-46054800	Weak transcription	Fetal Intestine Small	intestine
14	chr10:46042400-46053200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr10:46043400-46053200	Weak transcription	Right Ventricle	heart
16	chr10:46043400-46057800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:46043800-46053200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr10:46044000-46053000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr10:46044000-46053600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:46044400-46057800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr10:46045000-46053000	Weak transcription	Thymus	Thymus
22	chr10:46045000-46058600	Weak transcription	Fetal Stomach	stomach
23	chr10:46045200-46053000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr10:46046200-46057400	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:46046400-46055400	Weak transcription	Fetal Intestine Large	intestine
26	chr10:46047000-46076400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr10:46049400-46053000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr10:46049400-46053000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr10:46049400-46053000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr10:46049400-46053200	Weak transcription	Brain Substantia Nigra	brain
31	chr10:46049400-46065200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr10:46050200-46053000	Weak transcription	Small Intestine	intestine
33	chr10:46050400-46055000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr10:46051600-46054400	Enhancers	Brain Hippocampus Middle	brain
35	chr10:46051800-46053000	Weak transcription	Adipose Nuclei	Adipose
36	chr10:46051800-46053200	Flanking Active TSS	HUVEC	blood vessel
37	chr10:46051800-46054200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:46051800-46055600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr10:46051800-46057600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:46052000-46053000	Weak transcription	Brain Angular Gyrus	brain
41	chr10:46052000-46054400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr10:46052000-46054400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr10:46052200-46054200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr10:46052200-46055600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr10:46052400-46053000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr10:46052400-46054400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr10:46052400-46054400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr10:46052600-46053400	Enhancers	Pancreas	Pancrea
49	chr10:46052600-46054200	Enhancers	Fetal Thymus	thymus
50	chr10:46052600-46054200	Enhancers	Left Ventricle	heart

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