Variant report

Variant	rs11982044
Chromosome Location	chr7:83824742-83824743
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	TCF12	chr7:83824076-83824801	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr7:83823831-83824861	ECC-1	luminal epithelium:	n/a	chr7:83824414-83824421 chr7:83824173-83824187
3	MAX	chr7:83823714-83824823	ECC-1	luminal epithelium:	n/a	chr7:83824042-83824051
4	MAX	chr7:83824123-83824788	A549	lung:	n/a	n/a
5	MAX	chr7:83823742-83824748	SK-N-SH	brain:	n/a	chr7:83824042-83824051
6	ZNF263	chr7:83823820-83825071	HEK293-T-REx	kidney:	n/a	chr7:83824831-83824840
7	RAD21	chr7:83823666-83824893	IMR90	lung:	n/a	n/a
8	CHD1	chr7:83823174-83826140	IMR90	lung:	n/a	n/a
9	TCF12	chr7:83824057-83824834	ECC-1	luminal epithelium:	n/a	n/a
10	TCF12	chr7:83823845-83825977	A549	lung:	n/a	n/a
11	MXI1	chr7:83822808-83825363	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr7:83824244-83824744	ECC-1	luminal epithelium:	n/a	n/a
13	MXI1	chr7:83822844-83824965	IMR90	lung:	n/a	n/a
14	TAF1	chr7:83823772-83824862	ECC-1	luminal epithelium:	n/a	n/a
15	SIN3AK20	chr7:83824057-83824792	HCT-116	colon:	n/a	n/a
16	REST	chr7:83823828-83824959	H1-neurons	neurons:	n/a	chr7:83823909-83823916 chr7:83824375-83824393
17	EP300	chr7:83824011-83824755	A549	lung:	n/a	chr7:83824414-83824421 chr7:83824173-83824187
18	GATA3	chr7:83822943-83825022	SK-N-SH	brain:	n/a	chr7:83824227-83824238
19	POLR2A	chr7:83823563-83825927	IMR90	lung:	n/a	n/a
20	MAX	chr7:83823707-83824873	A549	lung:	n/a	chr7:83824042-83824051 chr7:83824863-83824873
21	KAP1	chr7:83823779-83825239	HEK293	kidney:	n/a	n/a
22	PBX3	chr7:83824037-83824837	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
SEMA3A	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11971838	1.00[ASN][1000 genomes]
rs11981143	1.00[ASN][1000 genomes]
rs11982456	1.00[ASN][1000 genomes]
rs28631483	1.00[ASN][1000 genomes]
rs58513095	1.00[ASN][1000 genomes]
rs61194772	1.00[ASN][1000 genomes]
rs73709587	1.00[ASN][1000 genomes]
rs73709588	1.00[ASN][1000 genomes]
rs73709590	1.00[ASN][1000 genomes]
rs73709592	1.00[ASN][1000 genomes]
rs73709595	1.00[ASN][1000 genomes]
rs73709602	1.00[ASN][1000 genomes]
rs73712705	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83819400-83825800	Active TSS	Stomach Smooth Muscle	stomach
2	chr7:83819400-83826000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:83819600-83824800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:83819600-83826000	Active TSS	NHLF	lung
5	chr7:83820000-83825800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:83820600-83825600	Active TSS	Fetal Intestine Large	intestine
7	chr7:83820600-83825800	Active TSS	Fetal Stomach	stomach
8	chr7:83820600-83826000	Active TSS	Colon Smooth Muscle	Colon
9	chr7:83820600-83826000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr7:83820600-83826000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr7:83820800-83825000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr7:83820800-83825600	Active TSS	Fetal Muscle Leg	muscle
13	chr7:83820800-83826000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:83820800-83826000	Active TSS	Rectal Smooth Muscle	rectum
15	chr7:83820800-83826200	Active TSS	NHDF-Ad	bronchial
16	chr7:83821000-83824800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:83821000-83825600	Active TSS	Brain Germinal Matrix	brain
18	chr7:83821000-83826000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:83821000-83826200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:83821200-83826000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:83821400-83824800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:83821400-83825800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:83821400-83825800	Active TSS	Fetal Kidney	kidney
24	chr7:83821600-83825800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr7:83821800-83824800	Active TSS	A549	lung
26	chr7:83821800-83825800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr7:83821800-83825800	Active TSS	Fetal Lung	lung
28	chr7:83822000-83824800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:83822000-83824800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:83822200-83824800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:83822400-83824800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:83822400-83825000	Active TSS	Fetal Intestine Small	intestine
33	chr7:83822400-83825800	Active TSS	Brain Cingulate Gyrus	brain
34	chr7:83822600-83825800	Active TSS	Fetal Muscle Trunk	muscle
35	chr7:83822600-83825800	Active TSS	Right Atrium	heart
36	chr7:83822600-83826000	Active TSS	Brain Angular Gyrus	brain
37	chr7:83822600-83826000	Active TSS	Brain Hippocampus Middle	brain
38	chr7:83822800-83826000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr7:83823200-83824800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr7:83823200-83824800	Active TSS	Hela-S3	cervix
41	chr7:83823200-83825800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:83823400-83824800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr7:83823400-83824800	Flanking Active TSS	HUVEC	blood vessel
44	chr7:83823600-83824800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:83823600-83825000	Active TSS	Duodenum Mucosa	Duodenum
46	chr7:83823600-83825800	Active TSS	Left Ventricle	heart
47	chr7:83823600-83825800	Active TSS	Right Ventricle	heart
48	chr7:83823800-83824800	Active TSS	Primary B cells from cord blood	blood
49	chr7:83823800-83824800	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr7:83823800-83824800	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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