Variant report

Variant	rs2303930
Chromosome Location	chr7:150761548-150761549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2069452	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2069459	0.84[EUR][1000 genomes]
rs34740196	0.93[ASN][1000 genomes]
rs58134191	0.80[EUR][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	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
10	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
11	nsv524928	chr7:150731698-150766799	Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
13	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
14	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
15	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
16	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
17	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
18	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
19	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
20	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150757800-150761600	Weak transcription	Aorta	Aorta
2	chr7:150758200-150761600	Weak transcription	Psoas Muscle	Psoas
3	chr7:150758200-150762000	Weak transcription	Primary T cells from cord blood	blood
4	chr7:150758400-150761600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:150758400-150761600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:150758400-150761800	Weak transcription	Fetal Brain Female	brain
7	chr7:150758400-150764000	Weak transcription	Primary B cells from cord blood	blood
8	chr7:150758400-150776000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:150758600-150761600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:150758600-150764600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:150758600-150766600	Weak transcription	Brain Angular Gyrus	brain
12	chr7:150758800-150774600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr7:150758800-150774800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr7:150758800-150775800	Strong transcription	Thymus	Thymus
15	chr7:150759000-150761800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:150759000-150762000	Weak transcription	Brain Anterior Caudate	brain
17	chr7:150759000-150774600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:150759000-150775400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr7:150759200-150761600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:150759200-150764400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:150759200-150773600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:150759200-150775400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:150759200-150775400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:150759200-150776400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:150759400-150761600	Weak transcription	Brain Substantia Nigra	brain
26	chr7:150759400-150761800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr7:150759400-150761800	Weak transcription	HUVEC	blood vessel
28	chr7:150759400-150762400	Weak transcription	GM12878-XiMat	blood
29	chr7:150759400-150775600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:150759800-150769800	Strong transcription	Dnd41	blood
31	chr7:150760000-150761600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:150760000-150761600	Weak transcription	Fetal Lung	lung
33	chr7:150760000-150763000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr7:150760000-150775000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:150760200-150774200	Strong transcription	Spleen	Spleen
36	chr7:150760200-150775000	Weak transcription	Right Atrium	heart
37	chr7:150760400-150762800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:150760400-150768800	Genic enhancers	Placenta	Placenta
39	chr7:150760400-150775400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:150760600-150761600	Weak transcription	Brain Germinal Matrix	brain
41	chr7:150760600-150761800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:150760600-150765200	Weak transcription	Fetal Kidney	kidney
43	chr7:150760600-150774000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:150760600-150775200	Strong transcription	Lung	lung
45	chr7:150760600-150776800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr7:150760800-150761600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:150760800-150761600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:150760800-150761600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:150760800-150761600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:150760800-150761600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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