Variant report

Variant	rs9621190
Chromosome Location	chr22:31516869-31516870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:31516805-31516869	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr22:31516666-31517029	H1-hESC	embryonic stem cell:	n/a	chr22:31516835-31516848

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31516152..31519079-chr22:31523414..31526420,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198832	TF binding region
INPP5J	TF binding region
ENSG00000185133	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2232184	0.91[AMR][1000 genomes]
rs3788427	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5997872	0.81[AFR][1000 genomes]
rs8135641	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9621195	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31504400-31517800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr22:31504400-31518000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr22:31504600-31518600	Weak transcription	Fetal Brain Female	brain
4	chr22:31512600-31517800	Weak transcription	Aorta	Aorta
5	chr22:31514000-31517000	Enhancers	K562	blood
6	chr22:31514000-31517200	Enhancers	Right Ventricle	heart
7	chr22:31514200-31518400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:31514400-31517600	Weak transcription	Colonic Mucosa	Colon
9	chr22:31514400-31517600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr22:31514600-31518200	Weak transcription	Psoas Muscle	Psoas
11	chr22:31515000-31517400	Weak transcription	Fetal Intestine Small	intestine
12	chr22:31515400-31518000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:31515400-31518200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:31515400-31518200	Weak transcription	Placenta	Placenta
15	chr22:31515600-31518600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:31515600-31518600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr22:31515800-31518200	Weak transcription	Pancreas	Pancrea
18	chr22:31515800-31518400	Weak transcription	Spleen	Spleen
19	chr22:31516000-31517000	Enhancers	Fetal Heart	heart
20	chr22:31516000-31517800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr22:31516000-31518600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:31516400-31517000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr22:31516600-31517600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:31516600-31517600	Weak transcription	Left Ventricle	heart
25	chr22:31516600-31517600	Weak transcription	Right Atrium	heart
26	chr22:31516600-31518000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr22:31516600-31518200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr22:31516600-31518200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr22:31516600-31518200	Weak transcription	Fetal Muscle Leg	muscle
30	chr22:31516600-31518400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:31516600-31518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr22:31516600-31518600	Weak transcription	HSMM	muscle
33	chr22:31516800-31517000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr22:31516800-31518200	Weak transcription	HSMMtube	muscle
35	chr22:31516800-31518400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr22:31516800-31518600	Enhancers	Fetal Intestine Large	intestine

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