Variant report

Variant	rs7043868
Chromosome Location	chr9:71513300-71513301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10746969	0.96[ASN][1000 genomes]
rs10781257	0.83[ASN][1000 genomes]
rs10781264	0.97[ASN][1000 genomes]
rs10781265	0.97[ASN][1000 genomes]
rs10869403	0.80[ASN][1000 genomes]
rs10869407	0.80[ASN][1000 genomes]
rs10869415	0.82[ASN][1000 genomes]
rs10869419	0.82[ASN][1000 genomes]
rs10869420	0.82[ASN][1000 genomes]
rs10869432	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10869487	0.97[ASN][1000 genomes]
rs11144021	0.81[ASN][1000 genomes]
rs11144035	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1414947	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1414949	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4145885	0.82[ASN][1000 genomes]
rs4237270	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4744726	0.87[AMR][1000 genomes]
rs4745353	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4745360	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4745366	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6560406	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6560419	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7043133	0.87[AMR][1000 genomes]
rs7043242	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7851923	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7874714	0.80[ASN][1000 genomes]
rs883952	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv466393	chr9:71453443-71704827	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv614547	chr9:71453443-71704827	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
15	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv614549	chr9:71506459-71659280	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv1051798	chr9:71511805-71792032	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71459000-71519200	Weak transcription	Colonic Mucosa	Colon
2	chr9:71460800-71517000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr9:71492400-71515000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:71496600-71515200	Weak transcription	HepG2	liver
5	chr9:71502600-71516600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr9:71508800-71515200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr9:71509200-71514600	Enhancers	Fetal Heart	heart
8	chr9:71509800-71514000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr9:71510400-71513800	Strong transcription	Fetal Intestine Large	intestine
10	chr9:71510400-71513800	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr9:71510400-71514200	Enhancers	Right Ventricle	heart
12	chr9:71510400-71576200	Weak transcription	Stomach Mucosa	stomach
13	chr9:71510600-71515000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:71510600-71532400	Weak transcription	Small Intestine	intestine
15	chr9:71510800-71519800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:71511000-71514000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr9:71511000-71514200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:71511200-71513400	Weak transcription	Aorta	Aorta
19	chr9:71511200-71513800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr9:71511200-71514200	Enhancers	Fetal Muscle Leg	muscle
21	chr9:71511200-71514400	Enhancers	Right Atrium	heart
22	chr9:71511200-71519200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:71511400-71513800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr9:71511400-71514200	Enhancers	Left Ventricle	heart
25	chr9:71511600-71513400	Enhancers	Adipose Nuclei	Adipose
26	chr9:71511600-71514000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr9:71511600-71514000	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:71511600-71519800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr9:71511800-71513600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:71511800-71513800	Genic enhancers	Primary B cells from cord blood	blood
31	chr9:71511800-71514000	Weak transcription	Ovary	ovary
32	chr9:71511800-71519200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:71512000-71514000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr9:71512000-71514000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:71512000-71519800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:71512000-71520000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr9:71512200-71513400	Weak transcription	GM12878-XiMat	blood
38	chr9:71512200-71548800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr9:71512400-71513400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr9:71512400-71513600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr9:71512400-71517600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr9:71512400-71520200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr9:71512600-71513800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:71512800-71513800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr9:71512800-71514000	Enhancers	Spleen	Spleen
46	chr9:71512800-71514200	Strong transcription	Fetal Intestine Small	intestine
47	chr9:71512800-71515200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:71512800-71520200	Weak transcription	Primary T cells from cord blood	blood
49	chr9:71512800-71527600	Weak transcription	Pancreas	Pancrea
50	chr9:71513000-71513400	Enhancers	Skeletal Muscle Male	skeletal muscle

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