Variant report

Variant	rs17034495
Chromosome Location	chr1:10135652-10135653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10123267..10128743-chr1:10130766..10138737,8	K562	blood:
2	chr1:10133208..10136179-chr1:10139404..10141343,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs61782861	1.00[AMR][1000 genomes]
rs61782862	1.00[AMR][1000 genomes]
rs61782887	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61782891	1.00[AMR][1000 genomes]
rs61782892	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61782895	0.87[AFR][1000 genomes]
rs61782902	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61785624	1.00[AMR][1000 genomes]
rs6541078	1.00[MEX][hapmap]
rs6691365	1.00[MEX][hapmap]
rs7523892	1.00[MEX][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17034495	FAIM3	trans	lymphoblastoid	seeQTL
rs17034495	B4GALT6	trans	lymphoblastoid	seeQTL
rs17034495	AKAP7	trans	lymphoblastoid	seeQTL
rs17034495	PIK3CD	cis	lymphoblastoid	seeQTL
rs17034495	SCARF1	trans	lymphoblastoid	seeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10095000-10147600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:10106800-10155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:10107000-10140600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:10107400-10165400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:10109400-10158400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:10116600-10145000	Weak transcription	Stomach Mucosa	stomach
7	chr1:10118200-10163000	Weak transcription	Aorta	Aorta
8	chr1:10119200-10155200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:10120000-10156400	Weak transcription	Spleen	Spleen
10	chr1:10120000-10162600	Weak transcription	Gastric	stomach
11	chr1:10120400-10163000	Weak transcription	Fetal Kidney	kidney
12	chr1:10121800-10141400	Weak transcription	Hela-S3	cervix
13	chr1:10124400-10155200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:10124600-10140600	Weak transcription	Fetal Brain Female	brain
15	chr1:10125800-10165400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:10125800-10165400	Weak transcription	Fetal Brain Male	brain
17	chr1:10126000-10154800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:10126000-10161000	Weak transcription	A549	lung
19	chr1:10126400-10162800	Weak transcription	Brain Germinal Matrix	brain
20	chr1:10126400-10163000	Weak transcription	Pancreas	Pancrea
21	chr1:10126400-10165400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:10127800-10140600	Weak transcription	Fetal Lung	lung
23	chr1:10128000-10144800	Weak transcription	Psoas Muscle	Psoas
24	chr1:10129000-10139200	Weak transcription	Placenta	Placenta
25	chr1:10129000-10145200	Weak transcription	Right Atrium	heart
26	chr1:10131400-10137800	Strong transcription	Fetal Muscle Leg	muscle
27	chr1:10131600-10135800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:10131600-10135800	Strong transcription	Liver	Liver
29	chr1:10132000-10135800	Strong transcription	Primary T cells from cord blood	blood
30	chr1:10132200-10145000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:10132200-10156000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:10132400-10140600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:10132400-10155200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:10132400-10155400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:10132400-10163000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:10132600-10162600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:10132600-10165400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:10133000-10135800	Strong transcription	Thymus	Thymus
39	chr1:10133000-10136000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:10133000-10136200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:10133200-10135800	Enhancers	HMEC	breast
42	chr1:10133200-10135800	Enhancers	NHDF-Ad	bronchial
43	chr1:10133200-10136000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:10133200-10136000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:10133200-10137400	Enhancers	Brain Substantia Nigra	brain
46	chr1:10133200-10137800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr1:10133200-10138400	Strong transcription	Fetal Stomach	stomach
48	chr1:10133400-10136000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr1:10133600-10136000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:10133600-10136000	Enhancers	Brain Inferior Temporal Lobe	brain

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