Variant report

Variant	rs2131411
Chromosome Location	chr1:225813373-225813374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225798398..225800029-chr1:225812208..225813908,2	MCF-7	breast:
2	chr1:225813188..225814940-chr1:226168399..226170379,2	K562	blood:
3	chr1:225812132..225816261-chr1:225840645..225843021,5	MCF-7	breast:
4	chr1:225812743..225815583-chr1:225838779..225842082,3	MCF-7	breast:
5	chr1:225811629..225814682-chr1:225837317..225840214,3	MCF-7	breast:
6	chr1:225812888..225814596-chr1:225815974..225818841,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1764344	1.00[AMR][1000 genomes]
rs1771315	1.00[AMR][1000 genomes]
rs2615065	1.00[AMR][1000 genomes]
rs2615072	1.00[AMR][1000 genomes]
rs2639717	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2657565	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2840947	1.00[AMR][1000 genomes]
rs2840951	1.00[AMR][1000 genomes]
rs2840961	1.00[AMR][1000 genomes]
rs4653641	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:225780800-225815400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:225781000-225825400	Weak transcription	Fetal Stomach	stomach
4	chr1:225793600-225813800	Weak transcription	NH-A	brain
5	chr1:225795600-225813800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:225797200-225815200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:225797400-225814000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:225801600-225813600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:225802600-225813400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:225802600-225813800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:225805800-225814800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:225806000-225813400	Weak transcription	Aorta	Aorta
13	chr1:225806000-225813800	Weak transcription	Fetal Intestine Small	intestine
14	chr1:225806200-225817600	Weak transcription	Fetal Brain Female	brain
15	chr1:225806400-225813400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:225806400-225813800	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:225806400-225814200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:225806400-225814200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:225806400-225814400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:225806400-225815200	Weak transcription	Adipose Nuclei	Adipose
21	chr1:225806800-225813600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:225806800-225813800	Weak transcription	Right Ventricle	heart
23	chr1:225806800-225814000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:225806800-225814000	Weak transcription	NHDF-Ad	bronchial
25	chr1:225806800-225814600	Weak transcription	A549	lung
26	chr1:225807000-225814000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:225807200-225820400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:225808200-225818400	Weak transcription	Fetal Brain Male	brain
29	chr1:225809600-225813600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:225809800-225837800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:225810000-225813600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:225810000-225825400	Weak transcription	NHEK	skin
33	chr1:225810600-225813600	Weak transcription	Brain Substantia Nigra	brain
34	chr1:225810600-225813600	Weak transcription	HSMM	muscle
35	chr1:225810600-225815000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:225810600-225815200	Weak transcription	Pancreas	Pancrea
37	chr1:225810600-225815600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:225810800-225813800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:225812400-225814000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:225812400-225815800	Enhancers	Fetal Lung	lung
41	chr1:225812400-225816000	Enhancers	Ovary	ovary
42	chr1:225812400-225816000	Enhancers	Stomach Smooth Muscle	stomach
43	chr1:225812600-225813400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:225812600-225813400	Enhancers	Right Atrium	heart
45	chr1:225812600-225813800	Enhancers	HMEC	breast
46	chr1:225812600-225814000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:225812600-225814200	Enhancers	Gastric	stomach
48	chr1:225812600-225814400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:225812600-225816200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr1:225812600-225816200	Enhancers	Skeletal Muscle Male	skeletal muscle

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