Variant report

Variant	rs10121188
Chromosome Location	chr9:96021768-96021769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:96021668-96022348	PFSK-1	brain:	n/a	n/a
2	EGR1	chr9:96021618-96021881	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96020792..96023723-chr9:96026447..96028698,2	K562	blood:
2	chr9:95997022..95999058-chr9:96020886..96022482,2	MCF-7	breast:
3	chr9:96020489..96022971-chr9:96024091..96026652,4	MCF-7	breast:
4	chr9:96021057..96023723-chr9:96026447..96029184,3	K562	blood:
5	chr9:96021285..96023121-chr9:96028927..96031409,2	K562	blood:
6	chr9:96020313..96022881-chr9:96023232..96025158,2	MCF-7	breast:
7	chr9:96019851..96022261-chr9:96024347..96025902,2	K562	blood:

No data

Variant related genes	Relation type
WNK2	TF binding region
ENSG00000165238	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10114908	0.90[AFR][1000 genomes]
rs12341311	0.90[AFR][1000 genomes]
rs16909013	0.88[AFR][1000 genomes]
rs28654199	0.95[AFR][1000 genomes]
rs73651203	0.95[AFR][1000 genomes]
rs7848480	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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
4	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv893582	chr9:95963114-96116937	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv893583	chr9:95996573-96091688	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv893584	chr9:96002983-96116937	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95995200-96026400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr9:95995600-96030600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:96005400-96033800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:96005600-96026200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:96006200-96043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:96008000-96030200	Strong transcription	Fetal Intestine Small	intestine
7	chr9:96008000-96030400	Strong transcription	Fetal Intestine Large	intestine
8	chr9:96008200-96026600	Weak transcription	Spleen	Spleen
9	chr9:96008200-96027600	Weak transcription	Right Atrium	heart
10	chr9:96008800-96026200	Weak transcription	Placenta	Placenta
11	chr9:96011000-96026400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:96011200-96030600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr9:96011200-96032800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr9:96011200-96033400	Weak transcription	A549	lung
15	chr9:96011800-96026200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr9:96012800-96032600	Weak transcription	Fetal Brain Male	brain
17	chr9:96013000-96031400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr9:96013800-96022600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr9:96014000-96033800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr9:96014400-96025400	Strong transcription	Brain Germinal Matrix	brain
21	chr9:96014400-96032800	Strong transcription	Fetal Brain Female	brain
22	chr9:96014800-96026800	Weak transcription	Fetal Heart	heart
23	chr9:96015000-96022200	Strong transcription	Fetal Stomach	stomach
24	chr9:96015200-96023400	Strong transcription	Right Ventricle	heart
25	chr9:96015400-96024000	Weak transcription	Left Ventricle	heart
26	chr9:96015400-96026600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr9:96015800-96026200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:96017400-96033200	Weak transcription	Brain Substantia Nigra	brain
29	chr9:96017800-96024000	Weak transcription	Gastric	stomach
30	chr9:96017800-96026400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr9:96017800-96030200	Weak transcription	Brain Angular Gyrus	brain
32	chr9:96018000-96021800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr9:96018000-96022000	Weak transcription	Brain Anterior Caudate	brain
34	chr9:96018000-96023200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:96018400-96033200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr9:96019200-96026600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr9:96019400-96022600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr9:96019400-96023400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr9:96019600-96024400	Weak transcription	HepG2	liver
40	chr9:96020000-96030000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:96020200-96023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:96020200-96023800	Strong transcription	Colon Smooth Muscle	Colon
43	chr9:96020200-96024000	Strong transcription	Pancreas	Pancrea
44	chr9:96020200-96024000	Weak transcription	Psoas Muscle	Psoas
45	chr9:96020600-96024000	Weak transcription	Colonic Mucosa	Colon
46	chr9:96020600-96024200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr9:96020600-96029200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:96021000-96022600	Weak transcription	Fetal Thymus	thymus
49	chr9:96021000-96022800	Weak transcription	Fetal Muscle Leg	muscle
50	chr9:96021000-96024200	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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