Variant report

Variant	rs944856
Chromosome Location	chr9:71439738-71439739
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71437717..71440700-chr9:71443079..71445018,2	K562	blood:
2	chr9:71438576..71440423-chr9:71455612..71458592,2	K562	blood:

Variant related genes	Relation type
ENSG00000236733	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10115871	0.91[JPT][hapmap]
rs10511962	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10511963	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10781227	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10781264	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs10869335	0.83[YRI][hapmap]
rs10869360	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10869365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10869395	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10869396	0.83[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10869400	0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10869401	0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10869403	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10869407	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10869415	0.93[ASN][1000 genomes]
rs10869419	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10869420	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs10869432	0.81[ASN][1000 genomes]
rs10869487	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11144021	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs11144035	0.81[ASN][1000 genomes]
rs11792022	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13284709	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1414944	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1414947	0.84[ASN][1000 genomes]
rs1414949	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2027025	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4145885	0.89[CHB][hapmap];0.83[JPT][hapmap];0.80[YRI][hapmap];0.93[ASN][1000 genomes]
rs4237270	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs4745237	0.81[EUR][1000 genomes]
rs4745295	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4745296	0.80[YRI][hapmap]
rs4745327	0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs4745328	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs4745353	0.86[ASN][1000 genomes]
rs4745360	0.84[ASN][1000 genomes]
rs6560391	0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6560392	0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6560419	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7031640	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7033278	0.91[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7043242	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs7851923	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7856247	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7857352	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7864097	0.86[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs7874714	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs883952	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs952589	0.82[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes]
rs9776840	0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1050741	chr9:71405224-71450033	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv540148	chr9:71405224-71450033	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv6548	chr9:71429527-71470917	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71414000-71445000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:71418600-71444800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:71421400-71443000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr9:71422600-71441000	Weak transcription	Fetal Stomach	stomach
5	chr9:71425000-71448600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr9:71432400-71440200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:71432800-71445600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:71433400-71449000	Weak transcription	HepG2	liver
9	chr9:71434400-71443600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr9:71435600-71440400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr9:71435800-71464800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:71436200-71441200	Weak transcription	Fetal Intestine Small	intestine
13	chr9:71437400-71448200	Weak transcription	Lung	lung
14	chr9:71437600-71453200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr9:71437800-71441200	Weak transcription	Stomach Mucosa	stomach
16	chr9:71438000-71440200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:71438000-71440200	Weak transcription	Brain Angular Gyrus	brain
18	chr9:71438000-71440200	Weak transcription	Gastric	stomach
19	chr9:71438000-71440200	Weak transcription	Left Ventricle	heart
20	chr9:71438000-71440200	Weak transcription	Psoas Muscle	Psoas
21	chr9:71438000-71440400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:71438000-71440400	Weak transcription	Fetal Heart	heart
23	chr9:71438000-71442800	Weak transcription	Right Atrium	heart
24	chr9:71438000-71442800	Weak transcription	K562	blood
25	chr9:71438000-71447400	Weak transcription	Aorta	Aorta
26	chr9:71438000-71447400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr9:71438000-71491200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr9:71438200-71440600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr9:71438800-71441200	Strong transcription	Primary B cells from cord blood	blood
30	chr9:71439200-71441000	Weak transcription	Fetal Intestine Large	intestine
31	chr9:71439200-71443000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:71439200-71456000	Weak transcription	GM12878-XiMat	blood
33	chr9:71439600-71440600	Enhancers	Pancreatic Islets	Pancreatic Islet

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