Variant report

Variant	rs2678166
Chromosome Location	chr1:169435027-169435028
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:169434628..169437236-chr1:169437830..169439900,2	K562	blood:
2	chr1:169432008..169435585-chr1:169454180..169456077,3	MCF-7	breast:
3	chr1:169419687..169421973-chr1:169433712..169435359,2	K562	blood:
4	chr1:169433035..169435323-chr1:169448952..169451529,2	K562	blood:
5	chr1:169434950..169436192-chr1:169515249..169516296,7	MCF-7	breast:
6	chr1:169434650..169437970-chr1:169438181..169441761,3	MCF-7	breast:
7	chr1:169434019..169436756-chr1:169452207..169454585,3	MCF-7	breast:
8	chr1:169434984..169435744-chr1:169515279..169516244,3	MCF-7	breast:
9	chr1:169427119..169430164-chr1:169432459..169436469,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117477	Chromatin interaction
ENSG00000117479	Chromatin interaction
ENSG00000234437	Chromatin interaction
ENSG00000213062	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1894692	1.00[AMR][1000 genomes]
rs6025	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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1001454	chr1:169387381-169465274	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1005941	chr1:169410486-169456393	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169429600-169448200	Weak transcription	Fetal Heart	heart
2	chr1:169429800-169436200	Weak transcription	Psoas Muscle	Psoas
3	chr1:169429800-169436200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:169429800-169436800	Weak transcription	Right Ventricle	heart
5	chr1:169429800-169446400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:169430000-169435200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:169430000-169435200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:169430000-169436000	Weak transcription	Brain Anterior Caudate	brain
9	chr1:169430000-169436200	Weak transcription	Primary T cells from cord blood	blood
10	chr1:169430000-169436200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:169430000-169436400	Weak transcription	Fetal Thymus	thymus
12	chr1:169430000-169443800	Weak transcription	Brain Substantia Nigra	brain
13	chr1:169430000-169444800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:169430000-169445600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:169430000-169445600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:169430000-169446200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:169430000-169446200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:169430000-169446200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:169430000-169446400	Weak transcription	HUVEC	blood vessel
20	chr1:169430000-169450000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:169430000-169452000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:169430000-169452000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:169430000-169452600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:169430000-169452800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:169430000-169452800	Weak transcription	Brain Germinal Matrix	brain
26	chr1:169430000-169452800	Weak transcription	HMEC	breast
27	chr1:169430000-169452800	Weak transcription	NHDF-Ad	bronchial
28	chr1:169430000-169452800	Weak transcription	NHEK	skin
29	chr1:169430000-169453400	Weak transcription	Colonic Mucosa	Colon
30	chr1:169430000-169453800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:169430000-169454000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:169430000-169454400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:169430000-169454400	Weak transcription	Spleen	Spleen
34	chr1:169430200-169436200	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:169430200-169436200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:169430200-169436400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr1:169430200-169436400	Weak transcription	Aorta	Aorta
38	chr1:169430200-169436400	Weak transcription	Ovary	ovary
39	chr1:169430200-169436400	Weak transcription	Osteobl	bone
40	chr1:169430200-169436800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:169430200-169436800	Weak transcription	Fetal Brain Female	brain
42	chr1:169430200-169436800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:169430200-169442600	Weak transcription	Gastric	stomach
44	chr1:169430200-169444800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:169430200-169445400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:169430200-169445600	Weak transcription	Fetal Intestine Small	intestine
47	chr1:169430200-169445600	Weak transcription	Fetal Stomach	stomach
48	chr1:169430200-169446200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:169430200-169446200	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:169430200-169446200	Weak transcription	Lung	lung

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