Variant report

Variant	rs9430
Chromosome Location	chr2:20401612-20401613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20310764..20312703-chr2:20401303..20403107,2	MCF-7	breast:
2	chr2:20305860..20308769-chr2:20399902..20401753,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234378	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10176811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10204427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13382254	1.00[AMR][1000 genomes]
rs13383365	1.00[AMR][1000 genomes]
rs13429680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2002089	1.00[EUR][1000 genomes]
rs6531226	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh 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	nsv1000323	chr2:20336237-20419923	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20389200-20413600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:20391000-20403600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:20391600-20402400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:20391600-20404800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:20391800-20402200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:20391800-20423200	Weak transcription	Right Atrium	heart
7	chr2:20395600-20403000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:20396400-20407000	Weak transcription	Small Intestine	intestine
9	chr2:20398000-20412200	Weak transcription	NH-A	brain
10	chr2:20398600-20406200	Weak transcription	GM12878-XiMat	blood
11	chr2:20399000-20402000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:20399400-20408400	Weak transcription	NHDF-Ad	bronchial
13	chr2:20399800-20404000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:20399800-20404600	Strong transcription	Fetal Intestine Small	intestine
15	chr2:20399800-20405600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:20400000-20403600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:20400000-20404600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr2:20400000-20405000	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr2:20400000-20408200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:20400200-20402400	Strong transcription	Placenta	Placenta
21	chr2:20400200-20403400	Strong transcription	HMEC	breast
22	chr2:20400200-20403800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:20400200-20405400	Strong transcription	Fetal Stomach	stomach
24	chr2:20400400-20402200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:20400400-20402200	Flanking Active TSS	Liver	Liver
26	chr2:20400400-20402400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:20400400-20402600	Strong transcription	Fetal Lung	lung
28	chr2:20400400-20402600	Strong transcription	Lung	lung
29	chr2:20400400-20404600	Strong transcription	Gastric	stomach
30	chr2:20400400-20405000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:20400400-20405200	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr2:20400400-20405200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:20400400-20405200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:20400400-20405200	Strong transcription	A549	lung
35	chr2:20400600-20401800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:20400600-20404000	Strong transcription	Brain Germinal Matrix	brain
37	chr2:20400600-20404000	Strong transcription	Fetal Brain Female	brain
38	chr2:20400600-20404600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr2:20400600-20405200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:20400600-20405400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr2:20400600-20405400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:20400600-20406800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:20400800-20402000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:20400800-20402200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:20400800-20403600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:20400800-20403600	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:20400800-20405400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:20401000-20402400	Strong transcription	NHEK	skin
49	chr2:20401000-20403800	Strong transcription	Stomach Mucosa	stomach
50	chr2:20401000-20404600	Strong transcription	HepG2	liver

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