Variant report

Variant	rs34038169
Chromosome Location	chr17:46152744-46152745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46124283..46126892-chr17:46151852..46155065,3	K562	blood:
2	chr17:46113009..46115141-chr17:46150190..46153046,2	MCF-7	breast:
3	chr17:46143868..46147268-chr17:46149730..46155245,6	K562	blood:
4	chr17:46151387..46154136-chr17:46155917..46157796,2	K562	blood:
5	chr17:46124623..46127890-chr17:46150973..46153766,5	MCF-7	breast:
6	chr17:46129155..46131443-chr17:46151423..46153191,2	K562	blood:
7	chr17:46151032..46153908-chr17:46162151..46164546,2	MCF-7	breast:
8	chr17:46102704..46105485-chr17:46150295..46153343,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000082641	Chromatin interaction
ENSG00000005243	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000207947	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12941306	1.00[AMR][1000 genomes]
rs12942412	1.00[AMR][1000 genomes]
rs12944699	1.00[AMR][1000 genomes]
rs12945188	1.00[AMR][1000 genomes]
rs12945362	1.00[AMR][1000 genomes]
rs12945768	1.00[AMR][1000 genomes]
rs12947761	1.00[AMR][1000 genomes]
rs12947966	1.00[AMR][1000 genomes]
rs12948207	1.00[AMR][1000 genomes]
rs16952687	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34033530	1.00[AMR][1000 genomes]
rs34153693	1.00[AMR][1000 genomes]
rs34166016	1.00[AMR][1000 genomes]
rs34358803	1.00[AMR][1000 genomes]
rs34632031	1.00[AMR][1000 genomes]
rs34768319	1.00[AMR][1000 genomes]
rs34822864	1.00[AMR][1000 genomes]
rs34958507	1.00[AMR][1000 genomes]
rs35177469	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35273388	1.00[AMR][1000 genomes]
rs35350665	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35534834	1.00[AMR][1000 genomes]
rs35551276	1.00[AMR][1000 genomes]
rs35647888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35677091	1.00[AMR][1000 genomes]
rs35711165	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35751035	1.00[AMR][1000 genomes]
rs35766594	1.00[AMR][1000 genomes]
rs35778085	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35795560	1.00[AMR][1000 genomes]
rs35848720	1.00[AMR][1000 genomes]
rs35928933	1.00[AMR][1000 genomes]
rs36059789	1.00[AMR][1000 genomes]
rs36090279	1.00[AMR][1000 genomes]
rs56078988	1.00[AMR][1000 genomes]
rs56363348	1.00[AMR][1000 genomes]
rs57864674	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57948485	1.00[AMR][1000 genomes]
rs58974249	1.00[AMR][1000 genomes]
rs59483607	1.00[AMR][1000 genomes]
rs59727791	1.00[AMR][1000 genomes]
rs60224300	1.00[AMR][1000 genomes]
rs60525548	1.00[AMR][1000 genomes]
rs6503951	1.00[AMR][1000 genomes]
rs71377331	1.00[AMR][1000 genomes]
rs71377332	1.00[AMR][1000 genomes]
rs71377334	1.00[AMR][1000 genomes]
rs71377338	1.00[AMR][1000 genomes]
rs71377341	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377342	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377352	1.00[AMR][1000 genomes]
rs71377355	1.00[AMR][1000 genomes]
rs73985416	1.00[AMR][1000 genomes]
rs73985417	1.00[AMR][1000 genomes]
rs73985418	1.00[AMR][1000 genomes]
rs73985419	1.00[AMR][1000 genomes]
rs73985421	1.00[AMR][1000 genomes]
rs73985422	1.00[AMR][1000 genomes]
rs73985424	1.00[AMR][1000 genomes]
rs73985479	1.00[AMR][1000 genomes]
rs8075711	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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	esv1804681	chr17:46144628-46168544	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46130400-46154600	Strong transcription	Primary T cells from cord blood	blood
2	chr17:46131200-46154200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:46131400-46154400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:46131400-46154400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:46132600-46155200	Strong transcription	Fetal Thymus	thymus
6	chr17:46133000-46154600	Strong transcription	Fetal Brain Female	brain
7	chr17:46133000-46155200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:46133200-46157200	Strong transcription	Fetal Stomach	stomach
9	chr17:46133400-46154400	Strong transcription	Brain Germinal Matrix	brain
10	chr17:46133400-46154400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr17:46133400-46154600	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:46133400-46155200	Strong transcription	Dnd41	blood
13	chr17:46133600-46154400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr17:46133600-46154400	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr17:46133600-46154600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr17:46134000-46154200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr17:46134400-46154400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr17:46135400-46155400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr17:46137400-46155200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr17:46137800-46154600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr17:46138000-46154400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr17:46139200-46162600	Weak transcription	Small Intestine	intestine
23	chr17:46139800-46162600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:46139800-46163600	Weak transcription	Esophagus	oesophagus
25	chr17:46140000-46153800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr17:46140000-46162400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr17:46140200-46156400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr17:46140800-46163200	Weak transcription	Colonic Mucosa	Colon
29	chr17:46142200-46154400	Strong transcription	Fetal Muscle Leg	muscle
30	chr17:46142400-46153600	Weak transcription	Gastric	stomach
31	chr17:46142600-46153400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:46142600-46162600	Weak transcription	Fetal Heart	heart
33	chr17:46143600-46157400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:46143800-46153400	Weak transcription	Spleen	Spleen
35	chr17:46143800-46154400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr17:46143800-46163200	Weak transcription	Aorta	Aorta
37	chr17:46144200-46154400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr17:46144200-46157000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:46144400-46153600	Weak transcription	Ovary	ovary
40	chr17:46144400-46154400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:46144400-46154400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr17:46144400-46154600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr17:46144400-46163000	Weak transcription	Psoas Muscle	Psoas
44	chr17:46144600-46154400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr17:46144600-46154400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:46144600-46154600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr17:46144600-46154600	Strong transcription	Fetal Lung	lung
48	chr17:46144800-46177800	Weak transcription	Right Ventricle	heart
49	chr17:46145000-46154600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr17:46145800-46154400	Strong transcription	Placenta	Placenta

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