Variant report

Variant	rs12349289
Chromosome Location	chr9:136772018-136772019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:136768403..136772752-chr9:136773070..136776538,4	K562	blood:
2	chr9:136737751..136739458-chr9:136770679..136772201,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12349072	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2428101	0.85[EUR][1000 genomes]
rs2789824	0.94[EUR][1000 genomes]
rs2789825	1.00[EUR][1000 genomes]
rs2789826	1.00[EUR][1000 genomes]
rs2789829	1.00[EUR][1000 genomes]
rs2789835	0.88[EUR][1000 genomes]
rs2810501	1.00[EUR][1000 genomes]
rs73662338	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1035272	chr9:136665308-136772256	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv894126	chr9:136747832-136779153	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv894127	chr9:136747832-136811772	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1832030	chr9:136753246-136785840	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1829795	chr9:136753246-136787253	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	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
12	nsv894129	chr9:136754076-136779153	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv973840	chr9:136761766-136773741	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv615739	chr9:136761938-136790282	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv466625	chr9:136762800-136787972	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv615740	chr9:136762800-136787972	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	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
18	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
19	esv3421873	chr9:136771956-136774504	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136729600-136780000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr9:136747600-136780800	Weak transcription	Right Atrium	heart
3	chr9:136753000-136813200	Weak transcription	Aorta	Aorta
4	chr9:136755600-136776000	Weak transcription	NHEK	skin
5	chr9:136756200-136772600	Weak transcription	NH-A	brain
6	chr9:136758200-136779000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:136758400-136772200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr9:136758400-136778800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:136758400-136781000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr9:136758800-136780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr9:136759400-136772200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:136760000-136772400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:136760600-136772400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:136760800-136773400	Weak transcription	Fetal Intestine Large	intestine
15	chr9:136763000-136773200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:136763200-136780800	Weak transcription	Hela-S3	cervix
17	chr9:136763400-136775400	Weak transcription	Liver	Liver
18	chr9:136765800-136797200	Weak transcription	HSMMtube	muscle
19	chr9:136766600-136784400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr9:136767200-136776400	Weak transcription	Stomach Mucosa	stomach
21	chr9:136767200-136777000	Weak transcription	Primary B cells from cord blood	blood
22	chr9:136768400-136778200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr9:136769200-136774000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:136769600-136772600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:136769800-136772400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:136770000-136776200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:136770200-136772200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr9:136770200-136772400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:136770200-136777000	Weak transcription	GM12878-XiMat	blood
30	chr9:136770200-136779000	Weak transcription	HSMM	muscle
31	chr9:136770400-136772600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:136770600-136774200	Enhancers	Lung	lung
33	chr9:136770800-136772400	Weak transcription	Fetal Muscle Leg	muscle
34	chr9:136770800-136773400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:136770800-136777200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:136770800-136777200	Weak transcription	HepG2	liver
37	chr9:136771000-136772400	Weak transcription	Fetal Stomach	stomach
38	chr9:136771000-136780800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:136771200-136774200	Enhancers	Fetal Brain Male	brain
40	chr9:136771400-136772600	Enhancers	Esophagus	oesophagus
41	chr9:136771400-136772600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr9:136771400-136772800	Genic enhancers	Spleen	Spleen
43	chr9:136771600-136772400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr9:136771600-136772600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr9:136771800-136772400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:136771800-136772600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:136771800-136772800	Enhancers	Brain Hippocampus Middle	brain
48	chr9:136771800-136772800	Flanking Active TSS	Fetal Brain Female	brain
49	chr9:136771800-136772800	Enhancers	HMEC	breast
50	chr9:136771800-136772800	Enhancers	NHLF	lung

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