Variant report

Variant	rs10993884
Chromosome Location	chr9:136855409-136855410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136790195..136791923-chr9:136853934..136856006,2	MCF-7	breast:
2	chr9:136855194..136860597-chr9:136929703..136933650,7	MCF-7	breast:
3	chr9:136372726..136374611-chr9:136854336..136856756,2	MCF-7	breast:
4	chr9:136657265..136659232-chr9:136854243..136855846,2	K562	blood:

Variant related genes	Relation type
ENSG00000169925	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2519825	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780799	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs429461	0.87[ASN][1000 genomes]
rs7021311	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv894128	chr9:136753246-136906752	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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
4	nsv1046310	chr9:136762829-136872226	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv894130	chr9:136767346-136906752	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
6	nsv831748	chr9:136788484-136944326	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv894131	chr9:136792765-136906752	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv831749	chr9:136809200-136915764	Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv894132	chr9:136813341-136950691	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv428226	chr9:136825035-136994606	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv615743	chr9:136835343-136874158	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv894133	chr9:136839840-136887757	Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv894134	chr9:136839840-136892523	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv894135	chr9:136839840-136927657	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv894136	chr9:136839840-136938961	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv894137	chr9:136839840-136950691	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
17	nsv894138	chr9:136839840-137093168	Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
18	esv1819984	chr9:136842109-136858528	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	esv1822910	chr9:136842109-136858528	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	esv1824837	chr9:136842109-136858528	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv615744	chr9:136843974-136865879	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv615745	chr9:136844973-136876021	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv825148	chr9:136848471-137025632	Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
24	nsv615746	chr9:136848821-136881323	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	esv1799134	chr9:136850906-136863033	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	esv1823529	chr9:136850906-136863033	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
27	esv1834445	chr9:136850906-136863033	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
28	esv1834811	chr9:136851763-136858419	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
29	nsv615747	chr9:136852501-136877628	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136844200-136855800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:136844200-136856000	Weak transcription	Small Intestine	intestine
3	chr9:136845800-136855600	Weak transcription	HSMMtube	muscle
4	chr9:136846000-136855800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr9:136846200-136855600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr9:136846400-136856000	Weak transcription	Fetal Kidney	kidney
7	chr9:136851600-136855600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:136851800-136855600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:136851800-136855600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:136852000-136855600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:136854600-136855800	Enhancers	Primary B cells from cord blood	blood
12	chr9:136854600-136855800	Enhancers	Fetal Lung	lung
13	chr9:136854800-136855600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:136854800-136855600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:136854800-136855600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr9:136854800-136855600	Enhancers	Lung	lung
17	chr9:136854800-136855800	Flanking Active TSS	Fetal Intestine Large	intestine
18	chr9:136854800-136855800	Enhancers	Gastric	stomach
19	chr9:136854800-136856000	Enhancers	Fetal Brain Male	brain
20	chr9:136854800-136856200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr9:136854800-136856200	Enhancers	Stomach Mucosa	stomach
22	chr9:136854800-136856400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr9:136855000-136855600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr9:136855000-136855600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:136855000-136855600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:136855000-136855600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr9:136855000-136855600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr9:136855000-136855600	Flanking Active TSS	Fetal Brain Female	brain
29	chr9:136855000-136855600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
30	chr9:136855000-136855600	Enhancers	HUVEC	blood vessel
31	chr9:136855000-136855600	Enhancers	NHDF-Ad	bronchial
32	chr9:136855000-136855800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:136855000-136855800	Enhancers	Esophagus	oesophagus
34	chr9:136855000-136855800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
35	chr9:136855000-136855800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr9:136855000-136856000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:136855000-136856000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:136855000-136856000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:136855000-136856000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:136855000-136856000	Bivalent Enhancer	Placenta	Placenta
41	chr9:136855000-136856200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:136855000-136856200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:136855000-136856200	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr9:136855000-136856200	Flanking Active TSS	Hela-S3	cervix
45	chr9:136855000-136856400	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr9:136855000-136856400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr9:136855000-136856400	Flanking Active TSS	Pancreas	Pancrea
48	chr9:136855000-136856800	Flanking Active TSS	Colonic Mucosa	Colon
49	chr9:136855000-136858800	Active TSS	Rectal Smooth Muscle	rectum
50	chr9:136855200-136855600	Enhancers	Rectal Mucosa Donor 29	rectum

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