Variant report

Variant	rs11704898
Chromosome Location	chr22:29447111-29447112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29446612..29448382-chr22:29463613..29465262,2	MCF-7	breast:
2	chr22:29445328..29447248-chr22:29662863..29665111,2	K562	blood:
3	chr22:29445976..29447498-chr22:29467768..29470564,2	MCF-7	breast:
4	chr22:29433370..29436929-chr22:29445281..29448151,3	K562	blood:
5	chr22:29444708..29447348-chr22:29547700..29550186,2	K562	blood:

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction
ENSG00000183762	Chromatin interaction
ENSG00000100263	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10483152	1.00[YRI][hapmap]
rs13055470	1.00[YRI][hapmap]
rs17518058	1.00[YRI][hapmap]
rs2881726	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6005967	0.81[AMR][1000 genomes]
rs66905312	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7290686	1.00[YRI][hapmap]
rs9608720	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9613768	0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9613778	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9613780	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9613782	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29427400-29448400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:29427800-29451400	Weak transcription	Psoas Muscle	Psoas
3	chr22:29437200-29450800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29437800-29448800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr22:29437800-29450200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:29438000-29447200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:29438200-29447400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:29438400-29449800	Strong transcription	Fetal Stomach	stomach
9	chr22:29438400-29451800	Strong transcription	Fetal Intestine Small	intestine
10	chr22:29439000-29447400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr22:29439000-29447400	Strong transcription	Fetal Intestine Large	intestine
12	chr22:29439000-29447400	Strong transcription	Stomach Smooth Muscle	stomach
13	chr22:29439000-29449800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr22:29439000-29450200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:29439200-29447400	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr22:29439200-29447400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr22:29439200-29447400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr22:29439200-29447400	Strong transcription	Pancreas	Pancrea
19	chr22:29439200-29447600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr22:29439200-29447600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:29439400-29447400	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr22:29439400-29448400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr22:29439400-29448400	Strong transcription	Brain Anterior Caudate	brain
24	chr22:29440000-29447400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr22:29440000-29447400	Strong transcription	Spleen	Spleen
26	chr22:29440000-29447600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr22:29440000-29451400	Weak transcription	Fetal Thymus	thymus
28	chr22:29440200-29448800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr22:29440400-29447400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr22:29440400-29447400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr22:29440600-29447400	Strong transcription	Lung	lung
32	chr22:29440800-29447400	Strong transcription	Adipose Nuclei	Adipose
33	chr22:29440800-29447400	Strong transcription	Colon Smooth Muscle	Colon
34	chr22:29440800-29448000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr22:29441000-29447400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:29441000-29449200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:29441000-29451200	Weak transcription	HSMM	muscle
38	chr22:29441000-29457000	Weak transcription	HUVEC	blood vessel
39	chr22:29441200-29447400	Strong transcription	Liver	Liver
40	chr22:29441200-29447400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:29441200-29447400	Strong transcription	HepG2	liver
42	chr22:29441200-29449600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:29441200-29458000	Weak transcription	HMEC	breast
44	chr22:29441400-29447200	Strong transcription	Brain Cingulate Gyrus	brain
45	chr22:29441600-29447400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr22:29441800-29447200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr22:29442000-29447400	Strong transcription	Brain Hippocampus Middle	brain
48	chr22:29442200-29447200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr22:29442200-29447400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr22:29442400-29447400	Strong transcription	Fetal Brain Female	brain

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