Variant report

Variant	rs803074
Chromosome Location	chr7:101928495-101928496
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101928402..101930093-chr7:102073347..102075211,2	K562	blood:
2	chr7:101928479..101930967-chr7:101967385..101968999,2	MCF-7	breast:
3	chr7:101924860..101932400-chr7:102029531..102038487,21	MCF-7	breast:
4	chr7:101457570..101460867-chr7:101928374..101931760,6	MCF-7	breast:
5	chr7:101927893..101931251-chr7:102072337..102075849,4	MCF-7	breast:
6	chr7:101928489..101931443-chr7:102024106..102026412,2	K562	blood:
7	chr7:101914536..101919891-chr7:101927361..101932016,8	MCF-7	breast:
8	chr7:101924242..101933059-chr7:102034727..102040076,14	MCF-7	breast:
9	chr7:101912928..101918938-chr7:101926951..101931541,5	K562	blood:
10	chr7:101928063..101931419-chr7:102036448..102039604,3	K562	blood:
11	chr7:101928482..101930196-chr7:102103795..102105466,2	MCF-7	breast:
12	chr7:101927301..101930290-chr7:102022735..102024275,2	MCF-7	breast:
13	chr7:101927779..101934386-chr7:102001430..102005829,12	MCF-7	breast:
14	chr17:56708217..56709743-chr7:101928266..101930039,2	MCF-7	breast:
15	chr7:101926103..101929302-chr7:102034428..102037305,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239969	Chromatin interaction
ENSG00000161036	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000160993	Chromatin interaction
ENSG00000128563	Chromatin interaction
ENSG00000160991	Chromatin interaction
ENSG00000239480	Chromatin interaction
ENSG00000239486	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2023482	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs803071	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs803075	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs974831	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464662	chr7:101912320-101949128	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv464663	chr7:101912320-101949128	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv607996	chr7:101912320-101949128	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv607997	chr7:101912320-101949128	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
5	esv2758126	chr7:101912320-102005026	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	esv2759548	chr7:101912320-102005026	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
7	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
13	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
16	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
17	esv1822373	chr7:101913187-101969458	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
18	nsv888828	chr7:101921289-101939759	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	23 gene(s)	inside rSNPs	diseases
19	nsv888829	chr7:101926788-101946385	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases
20	nsv888830	chr7:101926788-101957518	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs803074	SH2B2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101908000-101929200	Weak transcription	Gastric	stomach
2	chr7:101915800-101929000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:101917400-101929400	Weak transcription	HMEC	breast
4	chr7:101918800-101929000	Weak transcription	Stomach Mucosa	stomach
5	chr7:101923200-101929200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:101923200-101929200	Weak transcription	A549	lung
7	chr7:101923200-101929400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:101923400-101928600	Weak transcription	Fetal Brain Female	brain
9	chr7:101923400-101928800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:101923400-101929000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:101923400-101929400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:101925800-101929200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:101927000-101928600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:101927200-101928600	Weak transcription	HepG2	liver
15	chr7:101927400-101928600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:101927400-101928600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:101927400-101929200	Weak transcription	Fetal Intestine Small	intestine
18	chr7:101927600-101929200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:101927800-101928600	Bivalent Enhancer	Fetal Thymus	thymus
20	chr7:101927800-101928800	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr7:101927800-101929000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr7:101927800-101929200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:101927800-101929200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:101927800-101929200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr7:101927800-101929200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:101927800-101929200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:101927800-101929400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:101927800-101929400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr7:101927800-101929600	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr7:101927800-101929600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr7:101927800-101929800	Flanking Active TSS	GM12878-XiMat	blood
32	chr7:101928000-101928600	Flanking Active TSS	HSMM	muscle
33	chr7:101928000-101928600	Flanking Active TSS	HSMMtube	muscle
34	chr7:101928000-101928800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr7:101928000-101928800	Enhancers	Brain Substantia Nigra	brain
36	chr7:101928000-101928800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr7:101928000-101929400	Enhancers	Primary T cells from cord blood	blood
38	chr7:101928000-101929400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:101928000-101929400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr7:101928000-101929400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr7:101928000-101929400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr7:101928000-101929600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr7:101928000-101929800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr7:101928000-101930000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:101928000-101932000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:101928200-101928800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
47	chr7:101928200-101928800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:101928200-101928800	Bivalent Enhancer	K562	blood
49	chr7:101928200-101929200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:101928200-101929200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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