Variant report

Variant	rs11973021
Chromosome Location	chr7:104873390-104873391
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104861681..104863242-chr7:104872431..104874616,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs4275153	0.80[EUR][1000 genomes]
rs4730074	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55816223	0.81[EUR][1000 genomes]
rs62484665	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62484717	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS 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 lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats 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	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11973021	SLC8A3	trans	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104851600-104878600	Weak transcription	Right Ventricle	heart
2	chr7:104859000-104878600	Weak transcription	Gastric	stomach
3	chr7:104860200-104877200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:104862200-104873800	Weak transcription	Spleen	Spleen
5	chr7:104863600-104878400	Weak transcription	Aorta	Aorta
6	chr7:104863800-104873400	Weak transcription	Ovary	ovary
7	chr7:104863800-104877000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:104863800-104878600	Weak transcription	Pancreas	Pancrea
9	chr7:104864200-104878400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:104865600-104878600	Weak transcription	Left Ventricle	heart
11	chr7:104865800-104874800	Weak transcription	Adipose Nuclei	Adipose
12	chr7:104866000-104874000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:104866000-104876400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:104866000-104877400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:104866000-104878600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:104866200-104873400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:104866200-104873800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:104866400-104873400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:104866400-104876200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:104866400-104876200	Weak transcription	Colon Smooth Muscle	Colon
21	chr7:104866400-104876400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:104866400-104879400	Weak transcription	NHLF	lung
23	chr7:104866400-104881000	Weak transcription	GM12878-XiMat	blood
24	chr7:104866400-104881600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr7:104866400-104887200	Weak transcription	Small Intestine	intestine
26	chr7:104866600-104878800	Weak transcription	A549	lung
27	chr7:104866600-104881200	Weak transcription	NHDF-Ad	bronchial
28	chr7:104868200-104878600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:104868400-104885400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:104869200-104892000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:104869400-104874200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:104869400-104880000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:104869400-104885000	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:104869400-104885000	Weak transcription	Lung	lung
35	chr7:104869400-104885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:104869400-104885600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:104869600-104874400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:104869600-104875000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:104869600-104875000	Weak transcription	Thymus	Thymus
40	chr7:104869600-104876800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:104869600-104878000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:104869600-104878200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:104869600-104878600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:104869600-104885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:104869600-104885000	Weak transcription	Fetal Intestine Small	intestine
46	chr7:104869600-104885000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr7:104869600-104885000	Weak transcription	Fetal Stomach	stomach
48	chr7:104869600-104886400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:104869600-104909200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:104870800-104873400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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