Variant report

Variant	rs10929626
Chromosome Location	chr2:10136343-10136344
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10136192..10137782-chr2:10138431..10140040,2	MCF-7	breast:
2	chr2:10135218..10139149-chr2:10182379..10185639,3	K562	blood:
3	chr2:10135064..10137584-chr2:10260509..10262409,2	K562	blood:

Variant related genes	Relation type
ENSG00000172059	Chromatin interaction
ENSG00000272524	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11676022	1.00[AMR][1000 genomes]
rs11684500	0.82[AFR][1000 genomes]
rs11685697	0.84[LWK][hapmap]
rs16867271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867278	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34347527	1.00[AMR][1000 genomes]
rs35792405	0.82[AFR][1000 genomes]
rs57315427	0.82[AFR][1000 genomes]
rs73162258	1.00[AFR][1000 genomes]
rs73162261	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
2	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:10113400-10136800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:10113400-10141200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:10115000-10148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:10124000-10136400	Weak transcription	Hela-S3	cervix
8	chr2:10124400-10139200	Weak transcription	Gastric	stomach
9	chr2:10124800-10143200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:10124800-10149400	Weak transcription	Brain Anterior Caudate	brain
11	chr2:10125000-10140600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:10125000-10147600	Weak transcription	K562	blood
13	chr2:10125000-10149400	Weak transcription	Psoas Muscle	Psoas
14	chr2:10125200-10139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:10125200-10139200	Weak transcription	Pancreas	Pancrea
16	chr2:10125200-10150000	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:10126000-10144000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:10126200-10139200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:10126400-10141200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:10128000-10142800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:10128000-10146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:10128600-10140800	Weak transcription	Fetal Brain Male	brain
23	chr2:10130000-10142000	Strong transcription	HepG2	liver
24	chr2:10130800-10138600	Enhancers	Fetal Muscle Leg	muscle
25	chr2:10131600-10141200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:10131600-10149600	Weak transcription	Brain Substantia Nigra	brain
27	chr2:10131800-10137200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:10132200-10145200	Weak transcription	Fetal Intestine Large	intestine
29	chr2:10132200-10146800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:10132400-10146400	Weak transcription	Left Ventricle	heart
31	chr2:10132400-10146800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:10132600-10136600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:10133200-10146400	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:10133400-10144200	Strong transcription	Esophagus	oesophagus
35	chr2:10134000-10145600	Weak transcription	Fetal Kidney	kidney
36	chr2:10134000-10145800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:10134200-10142000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:10134200-10147000	Weak transcription	HSMMtube	muscle
39	chr2:10134400-10137200	Strong transcription	Placenta	Placenta
40	chr2:10134400-10138400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:10134400-10144000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:10134800-10136800	Weak transcription	Fetal Stomach	stomach
43	chr2:10134800-10137200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr2:10134800-10150600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:10135000-10136800	Weak transcription	Lung	lung
46	chr2:10135000-10139200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:10135200-10137000	Weak transcription	Fetal Intestine Small	intestine
48	chr2:10135200-10140800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:10135400-10139200	Weak transcription	Right Atrium	heart
50	chr2:10135400-10146400	Weak transcription	HUVEC	blood vessel

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